S. We-thank-professor, . Gilgenkranrz-for-valuable, . Discussions, and . Ropen, The Netherlands) for their he!p in the localisation of the Xp breakpoint. This worl<, FSB, and CP were supported bl' the European Community Human G enome programme (EC contract GENE-CT93-0022) and l'Association Française contre les Myopathies (AFM) The Sanger Centre

H. Lubs, P. Chiur3zzï, and . Arena-]-f, XLMRgenes: Update 1996, American Journal of Medical Genetics, vol.43, issue.1, pp.147-57, 1996.
DOI : 10.1002/ajmg.1320430168

. Glass-la, X linked menul retardation, J Mtd Gent!, vol.28, pp.361-71, 1991.

G. Neri, F. Guerrieri, A. Gal, and H. Lubs, X-\inked menul reeardation genes: update 1994, Am J Mtd GC"'I, vol.51, pp.542-551, 1994.
DOI : 10.1002/ajmg.1320510451

B. Kerr, G. Turner, and J. Mulley, Non-specifie X linked menul retardation, J Med Galcl, vol.28, pp.378-82, 1991.

A. Gedeon, A. Donnelly, and J. Mulley, How many X-linked genes for non-specifie mental retardation are there?-62. rangements associated with mendclian clisorders, Ani J Mtd GalC! J Mtd, vol.6430, pp.1587-1600, 1993.
DOI : 10.1002/(sici)1096-8628(19960712)64:1<158::aid-ajmg26>3.0.co;2-l

M. Fries, R. Lebo, and S. Schonberg, Mental reurdation locus in Xp21 chromosome microdeletion, Am J M Gen<l, vol.46, pp.3-63, 1993.
DOI : 10.1002/ajmg.1320460404

P. Il-raeymaekers, J. Lin, and X. Gu, Non-specifie mental retardation is probabl}' caused by a microdeletion in Belgian family, Ani J M Grnet, vol.64, pp.15-20, 1996.

!. Van-der-maare, . Sm, . Scholeen-l, and O. Weghuis, 1 al. C!oning of canclidate gencs for X-linked mental retardation by use of chromosome aberrations, Am J Mtd Genel, vol.64, pp.15-20, 1996.

P. Gusuvson, K. Gusuvson, and K. Lanson, Mapping of a balanced X; 15 translocation in a female with severe mental reurdation, Am J Mtd Gcml, vol.64, pp.15-20, 1996.

M. May, C. 1. Murgia, and A. , Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM, Human Molecular Genetics, vol.4, issue.8, pp.1465-1471, 1995.
DOI : 10.1093/hmg/4.8.1465

F. Rousseau, A. Vincent, and S. Rivella, Four chromosomal breakpoims and four new probes mark oue a 10-cM region encompassing the fragile X locus (FRAXA), Am J Hum Genet, vol.48, pp.108-124, 1991.

B. Lahn, N. Ma, and W. Breg, Xq-y q ineerchange resulting in supemormal X-linked gene expression in severe\y retarded males with 46 XYq-karyotype, Nal Gentl, vol.8, pp.243-50, 1994.

P. Billuart, M. Vinee, and V. Des-porces, Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation, Human Molecular Genetics, vol.5, issue.7, pp.977-986, 1996.
DOI : 10.1093/hmg/5.7.977

!. S. Van-der-maare, !. Scholten, . Hjm, and J. Maae-kievit, YeaSl artificial chromo some cloning of the Xq13.3-q21.31 region and the fine mapping of a deletion associated with chorioderemia and non-specifie menlal reurdation, EUT J Hum Cn, vol.3, pp.207-208, 1995.

C. Gosden, C. Davidson, and M. Robenlo-n, Lymphocyte cullure. ln: Roo ney ED, Czep ulkowski BH, cds. Human cy cogcllcn'cs, COllH icuciol/al Qllalysù. A praccica l approach. Vo1 1, pp.3-4, 1992.

J. Knighl, G. Grimaldi, and H. Thicscn, Clustered org.ni- Ullon of Kriippcl zinc-finger genes al Xp 11 .23, fi anking a transloca tion breakpoinl al OATL I : a phys ical m.p WH!' locus assigrunenlS for ZN F21, ZNF41, ZNF8 1, and . Eu.:: 1. CCUOII, pp.180-187, 1994.

M. Co-leman, A. Ncme-rh, and L. , A 1. 8 Mb YAC co nti. in Xp 11 .23 : idcnlificatio n of CpG ISlands and ph",ica l mapping of CA rcpcalS in a rC);io n of tugh gene dC:1Si[y. CCl/{ltIfl, CS, vol.2, issue.1, pp.337-350, 1994.

T. Io-22-h3gem, R. Surosky, and <. Ji, Physic31 mapping in , YAC contig of Il markas on th_ human X chromosome in Xp 11, Gmomics, vol.2311, pp.262-267

S. Forbes, L. Brennan, and M. Richardson, R_fined mapping and YAC c10ning construction of the X-linked clef< palate and ankyloglossia locm (CPX) including the proximal X-y homology breakpoint within Xq21, Gmomics, vol.331, pp.36-43, 1996.

C. Sargent, H. Briggs, and I. Chalmers, The sequence organization ofYp/proximal Xq homologous regions of the human sex chromosomes is highly conserved, Gmomics, vol.32, pp.200-209, 1996.

2. Chumakov-lm, P. Rigault, L. Gall, and J. , A YAC contig map of the human genome, Suppl, vol.377, pp.175-83, 1995.

Z. Lacin, A. Monaco, and H. Lehrach, Yeast artificial chromosome libracies containing large inserts From mouse and human DNA, Proc Nad Acad Sei, vol.88, pp.4123-4130, 1991.

R. Anand, J. Riley, and R. Butler, A 3.5 genome equivalent multi access YAC Iibrary: construction, characterization, screening and storage, Nucleic Aeids Rtl, vol.18, pp.195-196, 1990.

D. Markie and A. Davies, YAC DNA preparation and labelling for high throughput FISH analysis, Nucleic Acids Research, vol.23, issue.4, p.720, 1995.
DOI : 10.1093/nar/23.4.720

R. Lafreniere, M. Geraghry, and F. Valle, Omithine aminotransferase-related sequences map to [wo nonadja- Slùù ll -B.ina, Philipp" uHwp, u al ce:n[ ince: rvals on th~ human X chromosome: . Gt!nomjCJ, pp.276-285, 1991.
DOI : 10.1016/0888-7543(91)90512-d

D. Schord<r<t, C. Friedman, and C. Disteche, Pericentric inversion of the X chromosome: presentation of a case and review of the literaNre, Alln G.n", vol.31, pp.98-103, 1991.

D. Abe\iovich, J. Dagan, C. Kimchi-sarfary, and J. Zlotogora, Paracentric inversion X(q21q24) associated with mental retardation in males and normal ovacian function in females, Am J M.d Gmet, vol.55, pp.359-62, 1995.

J. Wilson, M. Ferguson, and N. Jenkins, Transgenic mouse mode! of X-Iinked clef< palate, Gdl Growth Differ, vol.4, pp.67-76, 1992.

D. Nelson, A. Ballabio, F. Cremers, M. Monaco, and D. Schlessingee, Report of the sixth international workshop on X chromosome mapping 1995, Gy/ogenu Gill Galer, vol.71, pp.308-350, 1995.

J. German, R. Archibald, and R. Chaganti, An inhecited pecicentric X chromosome associated with male pseudohermaphroditism . Excerpta M.dica lnt Gong Ser, p.126, 1976.

J. Madan, Balanced structural chang' os involving the human X: effect on sexual phenorype . Hum Gm, pp.216-237, 1983.

E. Theeman, R. Laxova, and B. Susman, The crirical region of the human Xq, Hum Gmet, vol.85, pp.445-451, 1990.

N. A. Affara, Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes, Nucleic Acids Research, vol.15, issue.18, pp.7325-7342, 1987.
DOI : 10.1093/nar/15.18.7325

H. M. Albertsen, H. Abderrahim, H. M. Cann, $. Dau, J. Set et al., Construction and charactenzation of a yeast artificial chromosome library containing seven haploid human genome equivalents, Proe. Natl. Aead. Sei. USA, pp.4256-4260, 1990.

R. Anand, J. H. Riley, J. C. Smith, and A. F. Markham, A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage, Nucleic Acids Research, vol.18, issue.8, pp.1951-1956, 1990.
DOI : 10.1093/nar/18.8.1951

D. F. Barker and P. R. Fain, Definition and mapping of STSs at STR and RFLP loci in Xp11-Xq22, Genomics, vol.18, issue.3, pp.712-716, 1993.
DOI : 10.1016/S0888-7543(05)80381-7

D. L. Browne, M. Zonana, and M. Litt, Dinucleotide repeat polymorphism at the DXYSIX locus, Nucleic Acids Res, vol.19, p.1721, 1991.

C. B. Coulam, S. C. Adamson, A. , and J. F. , Incidence of Premature Ovarian Failure, Obstetrical & Gynecological Survey, vol.42, issue.3, pp.604-606, 1986.
DOI : 10.1097/00006254-198703000-00020

F. P. Cremers, E. Sankil-a, F. Brunsmann, M. Jay, B. Jay et al., Deletions in patiènts with c1 assical choroideremia vary in size from 45 to several megabases, Am. J . Med. Genet, vol.47, pp.622-628, 1990.

I. Fa, C. J. Steva-novic, M. Thomson, E. J. Goodfellow, P. N. Cooke et al., Telome re-associa ted chromoso me fragmenta tion. Applica tion in ge nom e mnni pulation and a na lysis, Nature Genet, vol.2, pp.275-282, 1992.

~. S. Forbe, L. Brennan, M. Ri-cha-rdson, A. Coffey, C. G. Col-e et al., Refined Mapping and YAC Contig Construction of the X-Linked Cleft Palate and Ankyloglossia Locus (CPX) Including the Proximal X???Y Homology Breakpoint within Xq21.3, Genomics, vol.31, issue.1, pp.36-43, 1996.
DOI : 10.1006/geno.1996.0006

J. Kaplan, S. Gilgenkrantz, J. L. Dufier, and J. Frezal, Choroideremia and ovarian dysgenesis associated with an X;7 de novo balanced translocation, 1989.

Z. Larin, A. P. Monaco, and H. Lehrach, Yeast artificial chromosome ljbraries containinglarge inserts from mouse and human DNA, Proc. Natl. Acad. Sei. USA, pp.3233-3237, 1991.
DOI : 10.1073/pnas.88.10.4123

URL : http://www.pnas.org/content/88/10/4123.full.pdf

S. L. Lloyd, C. A. Sargent, J. Chalmers, E. Lim, S. S. Habeebu et al., An X-linked zinc finger gene mapping to Xq21.1???q21.3 closely related to ZFX and ZFY: possible origins from a common ancestral gene, Nucleic Acids Research, vol.19, issue.18, pp.4835-484, 1991.
DOI : 10.1093/nar/19.18.4835

D. E. Merry, J. G. Lesko, D. M. Sosnoski, R. A. Lewis, M. Lubinsky et al., Choroideremia and deafness with stapes fixation: A contiguous gene deletion syndrome in Xq21, Am. J. Med. Genet, vol.45, pp.530-540, 1989.

D. J. Munroe, M. Haas, E. Bric, T. Whitton, H. Aburatani et al., IRE-Bubble PCR: A Rapid Method for Efficient and Representative Amplification of Human Genomic DNA Sequences from Complex Sources, Genomics, vol.19, issue.3, pp.506-514, 1994.
DOI : 10.1006/geno.1994.1100

H. Neitzel, A routine method for the establishment of permanent growing lymphoblastoid cell lines, Human Genetics, vol.67, issue.4, pp.320-326, 1986.
DOI : 10.1007/BF00279094

D. L. Nelson, S. A. Ledbetter, L. Corbo, M. F. Victoria, R. Ramirez-solis et al., Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources., Proc. Natl. Aead. Sei. USA, pp.6686-6690, 1989.
DOI : 10.1073/pnas.86.17.6686

D. L. Nelson, A. Ballabio, M. A. Victoria, M. Pieretti, R. D. Bies et al., Alu-primed ~olymerasEl ch!lin reaction for regional assignment of 110 yeast artificial chromosome clones from the human X .chromosome: Identification of clones associated with a disease locus, Proe. Natl. Aead. Sei. USA, pp.6157-6161

C. Philippe, C. Arnould, F. Sloan, H. Van-bokhoven, S. D. Van-der-velde-visser et al., A High-Resolution Interval Map of the q21 Region of the Human X Chromosome, Genomics, vol.27, issue.3, pp.539-543, 1995.
DOI : 10.1006/geno.1995.1089

C. M. Powell, R. T. Taggart, T. C. Druheller, D. Wangsa, C. Qian et al., Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature, American Journal of Medical Genetics, vol.9, issue.1, pp.19-26, 1994.
DOI : 10.1016/0002-9378(77)90640-8

E. Rossi, A. Faiella, M. Zeviani, S. Labeit, G. Florida et al., Order of Six Loci at 2q24-q31 and Orientation of the HOXD Locus, Genomics, vol.24, issue.1, pp.34-40, 1994.
DOI : 10.1006/geno.1994.1579

C. A. Sargent, H. Briggs, 1. J. Chalmers, B. Lambson, E. Walker et al., The Sequence Organization of Yp/Proximal Xq Homologous Regions of the Human Sex Chromosomes Is Highly Conserved, Genomics, vol.32, issue.2, pp.200-209, 1996.
DOI : 10.1006/geno.1996.0106

G. E. Sarto, E. Thennan, and K. Patau, X inactiva tion in man : A woman with t(Xq -;12q + ), Am. J . Hum . Genet, vol.25, pp.262-270, 1973.

M. Schmidt, D. Sart, and D. , Functional di somies of the X chromosome influence the cell selection a nd hence the X inactivation pattern in females with balanced X-autosome translocations, 1992.

R. P. Sing and D. H. Carr, The anatomy and histology of XO human embryos and fetuses, The Anatomical Record, vol.14, issue.3, pp.369-384, 1966.
DOI : 10.1016/0002-9378(65)90594-6

V. M. Siu, J. R. Gonder, J. H. Jung, F. R. Sergovich, and F. W. Flintoff, Choroideremia associated with an X-autosomal translocation, Human Genetics, vol.84, issue.5, pp.459-464, 1990.
DOI : 10.1007/BF00195820

R. M. Speed, The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes, Human Genetics, vol.49, issue.3, pp.260-266, 1988.
DOI : 10.1007/BF00291673

P. Stanier, R. Newton, S. A. Forbes, A. Ivens, M. et al., Polymorphic dinucleotide repeat at the DXS3 locus, Nucleic Acids Research, vol.19, issue.17, p.4793, 1991.
DOI : 10.1093/nar/19.17.4793

E. Therman and B. Susman, The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis, Human Genetics, vol.85, issue.2, pp.175-183, 1990.
DOI : 10.1007/BF00193192

E. Therman, R. Laxova, and B. Susman, The critical region on the human Xq, Human Genetics, vol.85, issue.5, pp.455-501, 1990.
DOI : 10.1007/BF00194216

S. M. Van-der-maarel, 1. H. Scholten, J. A. Maat-kievit, L. Huber, Y. J. De-kok et al., Yeast Artificial Chromosome Cloning of the Xq13.3-q21.31 Region and Fine Mapping of a Deletion Associated with Choroideremia and Nonspecific Mental Retardation, European Journal of Human Genetics, vol.3, issue.4, pp.207-218, 1995.
DOI : 10.1159/000472301

D. Vollrath, S. Foote, A. Hilton, L. G. Brown, P. Beer-romero et al., The human Y chromosome: a 43-interval map based on naturally occurring deletions, Science, vol.258, issue.5079, pp.52-59, 1992.
DOI : 10.1126/science.1439769

J. L. Weber, A. E. Kwitek, P. E. May, M. H. Polymeropoulos, and S. Ledbetter, Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci, Nucleic Acids Research, vol.18, issue.13, p.4037, 1990.
DOI : 10.1093/nar/18.13.4037

H. F. Willard, F. P. Cremers, J. L. Mandel, A. P. Monaco, D. L. Nelson et al., Report of the fifth international workshop on human X chromosome mapping, Cytogenet. Cell Genet, vol.67, pp.295-358, 1994.
DOI : 10.2172/304035

D. F. Barker and P. M. Fain, Definition and mapping of STSs at STR and RFLP loci in Xp11-Xq22, Genomics, vol.18, issue.3, pp.712-716, 1993.
DOI : 10.1016/S0888-7543(05)80381-7

F. Benham, K. Hart, J. Crolla, M. Bobrow, M. Francavilla et al., A method for generating hybrids containing nonselected fragments of human chromosomes, Genomics, vol.4, issue.4, pp.509-517, 1989.
DOI : 10.1016/0888-7543(89)90274-7

F. P. Cremers, D. J. Van-de-pol, P. J. Diergaarde, B. Wieringa, R. L. Nussbaum et al., Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes, Genomics, vol.4, issue.1, pp.41-46, 1989.
DOI : 10.1016/0888-7543(89)90312-1

F. P. Cremers, D. J. Van-de-pol, L. P. Van-kerkhoff, B. Wieringa, R. et al., Cloning of a gene that is rearranged in patients with choroideraemia, Nature, vol.347, issue.6294, pp.674-677, 1990.
DOI : 10.1038/347674a0

A. R. Curtis, P. Roustan, S. Kamakari, O. Thiselton, S. Lindsay et al., Two dinucleotide repeat po lymorphisms at the DXS571 locus, Hum . Mol. Gene t, p.776, 1992.

Y. J. De-kok, S. M. Van-der-maarel, M. Bitner-glindzicz, L. Huber, A. P. Monaco et al., Association between Xlinked mixed deafness and mutations in the POU domain gene brain 4, Science, vol.27, pp.685-688, 1995.

A. Donnelly, H. Kozman, A. K. Gedeo-n, S. Webb, M. Lynch et al., A Linkage Map of Microsatellite Markers on the Human X Chromosome, Genomics, vol.20, issue.3, pp.363-370, 1994.
DOI : 10.1006/geno.1994.1189

P. J. Douville, S. Atanasoski, A. Tobler, A. Fontana, and M. E. Schwab, The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X Chromosomes, Mammalian Genome, vol.230, issue.6, pp.180-182, 1994.
DOI : 10.1007/BF00352353

G. Gyapay, J. Morissette, A. Vignal, C. Dib, C. Fizames et al., The 1993???94 G??n??thon human genetic linkage map, Nature Genetics, vol.58, issue.2, pp.246-339, 1994.
DOI : 10.1038/ng0492-34

1. Houdayer, . Co, A. Toutain, N. Ronce, G. Lefort et al., X-linked Ct thalassemia/mental retardation syndrome: Analysis in a new 'family further supports localization in proximal Xq, Ann. Génét, vol.36, pp.194-199, 1993.

1. Huber, M. Bitner-glindzicz, Y. J. De-kok, S. M. Van-de-maarel, Y. Ishikawa-brush et al., X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions, Human Molecular Genetics, vol.3, issue.7, pp.1151-1154, 1994.
DOI : 10.1093/hmg/3.7.1151

T. J. Hudson, M. Engelstein, M. K. Lee, E. C. Ho, M. J. Rubenfteld et al., Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms, Genomics, vol.13, issue.3, pp.622-629, 1992.
DOI : 10.1016/0888-7543(92)90133-D

S. Lindsay, A. J. Curtis, P. Roustan, S. Kamakari, D. L. Thiselton et al., Isolation and Characterization of Three Microsatellite Markers in the Proximal Long Arm of the Human X Chromosome, Genomics, vol.17, issue.1, pp.208-210, 1993.
DOI : 10.1006/geno.1993.1303

J. A. Lut-y, Z. Guo, H. F. Willard, D. H. Ledbetter, S. Ledbetter et al., Five polymorphic microsatellite VNTRs on the humanXchromosome Isolation of a candidate gene for choroideremia, 15 . Merry, Proc. Natl. Acad. Sei. USA, pp.776-783, 1990.

C. Philippe, F. P. Cremers, M. Chery, . Bach, N. Abbadi et al., Physical Mapping of DNA Markers in the q13-q22 Region of the Human X Chromosome, Genomics, vol.17, issue.1, pp.147-152, 1993.
DOI : 10.1006/geno.1993.1296

M. E. Porteus, A. Curtis, S. Lindsay, O. Williams, O. Goudie et al., The gene for aarskog syndrome is located between DXS255 and DXS566 (Xp11.2???Xq13), Genomics, vol.14, issue.2, pp.298-301, 1992.
DOI : 10.1016/S0888-7543(05)80219-8

K. T. Ram, D. F. Barker, and J. M. Puck, Dinucleotide repeat polymorphism at the DXS441 locus, Nucleic Acids Research, vol.20, issue.6, p.1428, 1992.
DOI : 10.1093/nar/20.6.1428

S. H. Rider and A. P. Monaco, Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus, Human Molecular Genetics, vol.2, issue.9, p.1510, 1993.
DOI : 10.1093/hmg/2.9.1510

P. Saugier-veber, V. Abadie, A. Moncla, M. Ma-thieu, C. Puissan et al., The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq 12-q21l, Am. J . Hum . Genet, vol.52, pp.1040-1045, 1993.

C. E. Sch-wartz, J. Martin, J. F. Arena, A. H. Lubs, and R. E. Steve-nson, ) ... \.l1an-Herndon-Dudley sy ndrome, linkage analys is in a th ird family and refinement of the loca li zation in Xq2 1, 1994.

P. Stanier, S. Forbes, and . 1. Richardson, Brenn an, 1, Cole, REFERENCES BIBLIOGRAPHIQUES, vol.1, p.66

K. Aittomaki, J. Lucena, and P. Pakarinen, Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure, Cell, vol.82, issue.6, pp.959-968, 1995.
DOI : 10.1016/0092-8674(95)90275-9

R. Anand, J. Riley, and R. Butler, A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage, Nucleic Acids Research, vol.18, issue.8, pp.1951-1956, 1990.
DOI : 10.1093/nar/18.8.1951

N. Archidiacono, M. Lerone, and M. Rocchi, Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations, Human Genetics, vol.86, issue.6, pp.604-606, 1991.
DOI : 10.1007/BF00201549

S. Banfi, A. Guffanti, and G. Borsani, How to get the best of dbEST. Trend s in, Genetics, vol.14, issue.2, pp.80-81, 1998.

M. Barr and E. Bertram, A Morphological Distinction between Neurones of the Male and Female and the Behaviour of the Nucleolar Satellite during Accelerated Nucleoprotein Synthesis, Nature, vol.163, issue.4148, p.676, 1949.
DOI : 10.1038/163676a0

A. Bensimon, A. Simon, and A. Chiffaudel, Alignment and sensitive detection of DNA by a moving interface, Science, vol.265, issue.5181, pp.2096-2098, 1994.
DOI : 10.1126/science.7522347

J. Bentley-lawrence, K. Carter, and M. Gerdes, Extending the capabilities of interphase chromatin mapping, Nature Genetics, vol.115, issue.3, pp.171-172, 1992.
DOI : 10.1016/0092-8674(80)90156-7

R. Berry, T. Stevens, and N. Walter, Gene???based sequence???tagged???sites (STSs) as the basis for a human gene map, Nature Genetics, vol.53, issue.4, pp.415-423, 1995.
DOI : 10.1038/ng0893-332

P. Billuart, S. Bione, C. Sala, and C. Mansini, Oligophrenin 1, 1998.
URL : https://hal.archives-ouvertes.fr/hal-00674703

M. Boguski and C. Schuler, ESTablishing a human transcript map, Nature Genetics, vol.22, issue.4, pp.369-371
DOI : 10.1038/368032a0

L. Bonifas, B. Morley, and R. Oakey, Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis., Proceedings of the National Academy of Sciences, vol.84, issue.24, pp.9248-9251, 1987.
DOI : 10.1073/pnas.84.24.9248

C. Borsani, R. Tonlorenzi, and M. Simmler, Characterization of a murine gene expressed from the inactive X chromosome, Nature, vol.351, issue.6324, pp.325-329, 1991.
DOI : 10.1038/351325a0

C. Brown, R. Lafreniere, and V. Powers, Localization of the X inactivation centre on the human X chromosome in Xq13, Nature, vol.349, issue.6304, pp.82-84, 1991.
DOI : 10.1038/349082a0

C. Brown, A. Ballabio, and J. Rup-ert, A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome, Nature, vol.349, issue.6304, pp.38-44, 1991.
DOI : 10.1038/349038a0

C. Brown and H. Willard, The human X-inactivation centre is not required for maintenance of X-chromosome inactivation, Nature, vol.4, issue.6467, pp.154-156, 1994.
DOI : 10.1016/0888-7543(89)90297-8

C. Brown, L. Carrel, and H. Willard, Expression of Genes from the Human Active and Inactive X Chromosomes, The American Journal of Human Genetics, vol.60, issue.6, pp.1333-1343, 1997.
DOI : 10.1086/515488

D. Burke, C. Carle, and M. Oison, Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors, Science, vol.236, issue.4803, pp.806-812, 1987.
DOI : 10.1126/science.3033825

P. Camus, N. Abbadi, and ·. Perrier, X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe, Human Genetics, vol.12, issue.2, pp.247-250, 1996.
DOI : 10.1016/S0387-7604(12)80194-X

G. Carle, M. Franck, and M. Oison, Electrophoretic separations of large DNA molecules by periodic inversion of the electric field, Science, vol.232, issue.4746, pp.65-68, 1986.
DOI : 10.1126/science.3952500

N. Carpenter, Balanced X;Autosome translocations and gonadal dysfunction in females and males. Cytogenetics of the Mammalian X chromosome, Part B: Cytogenetic of the mammalian X chromosome, Progress and topics in cytogenetics 3B, pp.211-224, 1983.

W. Cavenee, T. Dryja, and R. Phillips, Expression of recessive alleles by chromosomal mechanisms in retinoblastoma, Nature, vol.32, issue.5937, pp.779-784, 1983.
DOI : 10.1038/305779a0

A. Chand, J. Clark, and C. Cooper, Long-range organization of reiterated sequences, including the SSXI cDNA at the OATLI cluster ln Xp11, Genomics, vol.23, issue.30, pp.545-552, 1995.

. Chumakov-l and P. Rigault, A YAC contig map of the human genome, Nature, vol.377, pp.175-225, 1995.

S. Claes, A. Vogels, and M. Holvoet, Regional localization of two genes for nonspecific X-linked mental retardation to Xp22, pp.3-22, 1997.

. Xpll, 3-pll.21 (MRX50), American Journal of Medical Genetics, vol.73, pp.474-479

C. Clemson, J. Mcneil, and H. Willard, XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure, The Journal of Cell Biology, vol.132, issue.3, pp.259-275, 1996.
DOI : 10.1083/jcb.132.3.259

D. Cohen, C. L. Weissenbach, and J. , A first-generation physical map of the human genome, Nature, vol.366, issue.6456, pp.698-701, 1993.
DOI : 10.1038/366698a0

F. Collins, Positional cloning: Let's not call it reverse anymore, Nature Genetics, vol.88, issue.1, pp.3-6, 1992.
DOI : 10.1038/355637a0

F. Collins, Positional cloning moves from perditional to traditional, Nature Genetics, vol.91, issue.4, pp.347-350, 1995.
DOI : 10.1016/0092-8674(94)90281-X

H. Cooke, W. Brown, and G. Rappold, Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal, Nature, vol.3, issue.6039, pp.687-692, 1985.
DOI : 10.1128/MCB.3.12.2211

B. Courtier, E. Avner, and P. , Xce h ap lo types show modified methylation in a region of the active X chromosome lying 3' to Xist, 1995.

D. Cox, Radiation hybrid mapping, Cytogenetic and Genome Research, vol.59, issue.2-3, pp.80-88, 1992.
DOI : 10.1159/000133205

K. Davies, The essence of inactivity, Nature, vol.349, issue.6304, pp.15-16, 1991.
DOI : 10.1038/349015a0

A. Davies, R. Stephens, and M. Olavesen, Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region, Human Molecular Genetics, vol.4, issue.1, pp.121-128, 1995.

H. Dietz, G. Cutting, and R. Pyeritz, Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene, Nature, vol.352, issue.6333, pp.337-339, 1991.
DOI : 10.1038/352337a0

C. Disteche, Escape from X inactivation in human and mouse, Trends in Genetics, vol.11, issue.1, pp.17-22, 1995.
DOI : 10.1016/S0168-9525(00)88981-7

B. Dutrillaux and J. Couturier, La pratique de l'analyse chromosomique (Technique de laboratoire), p.86, 1981.

K. Ellison, C. Fill, and J. Terwilliger, Examination of X chromosome markers in Rett syndrome: exclusion m apping with a novel variation on multilocus linkage analysis, American Journal of Human Genetics, vol.50, pp.278-287, 1992.

T. Esposito, F. Gianfrancesco, and A. Ciccodicola, Escape from X Inactivation of Two New Genes Associated with DXS6974E and DXS7020E, Genomics, vol.43, issue.2, 1997.
DOI : 10.1006/geno.1997.4797

M. Fergusson-smith, Karyotype-phenotype Correlations in Gonadal Dysgenesis and Their Bearing on the Pathogenesis of Malformations, Journal of Medical Genetics, vol.2, issue.2, pp.142-170, 1965.
DOI : 10.1136/jmg.2.2.142

S. Forbes, M. Richardson, and L. Brennan, Refinem ent of the X-linked cleft palate and ankyloglossia (CPX) localization by gen e tic mapping in an Icelandic kindred, Human Genetics, vol.95, pp.342-346, 1995.

D. Freije-de, C. Helms, and M. Watson, Identification of a second pseudoautosomal region near the Xq and Yq telomeres, Science, vol.258, issue.5089, pp.1784-1787, 1992.
DOI : 10.1126/science.1465614

J. Frezal, Les maladies liées à l'X, dix ans après. 12ème séminaire de Génétique Clinique, 1996.

. Gabriel-robez-0, Y. Rumpler, and C. Ratomponirina, Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation, Cytogenetic and Genome Research, vol.54, issue.1-2, pp.38-42, 1990.
DOI : 10.1159/000132951

J. Gecz, A. Gedeon, and G. Sutherland, Identification of the gene FMR2, associated with FRAXE mental retardation, Nature Genetics, vol.83, issue.1, pp.105-108, 1996.
DOI : 10.1006/abio.1987.9999

A. Gedeon, Letter to the editor: How many X-linked genes for non-specific mental retardation (MRX) are there?, American Journal of Medical Genetics, vol.18, issue.1, pp.158-162, 1994.
DOI : 10.1002/(SICI)1096-8628(19960712)64:1<158::AID-AJMG26>3.0.CO;2-L

A. Gedeon, B. Kerr, and J. Mulley, Pericentromeric genes for non-specific X-linked mental retardation (MRX), American Journal of Medical Genetics, vol.359, issue.4, pp.553-564, 1996.
DOI : 10.1002/ajmg.1320510453

M. Geraghty, L. Brody, and L. Martin, The Isolation of cDNAs from OATL1 at Xp11.2 Using a 480-kb YAC, Genomics, vol.16, issue.2, pp.440-446, 1993.
DOI : 10.1006/geno.1993.1208

P. Goodfellow, S. Darling, and N. Thomas, A pseudo-autosomal gene in man, Science, vol.143, pp.740-743, 1986.

S. Gorski, K. Adams, and P. Birch, The gene responsable for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 et DXYS1, American Journal of Human Genetics, vol.50, pp.1129-1136, 1992.

J. Grouchy-de, Où cours-tu primate, l'homme est-il le cancer de la création, 1992.

. Groupe-des-cy-togénéticiens-français, Pericentric inversions in man. A French collaborative study, Annales de Génétique, vol.29, pp.129-168, 1986.

T. Haaf and D. Ward, High resolution ordering of YAC contigs using extended chromatin and chromosomes, Human Molecular Genetics, vol.3, issue.4, pp.629-633, 1994.
DOI : 10.1093/hmg/3.4.629

B. Hagberg, J. Aicardi, and K. Dias, A progressive syndrome of autism, demen tia, ataxia, and loss of purposeful h and use in girls: Rett's syndrome, 1983.

B. Hagberg, F. Goutières, and F. Hanefeld, Rett syndrome: Criteria for inclusion and exclusion, Brain and Development, vol.7, issue.3, pp.372-373, 1985.
DOI : 10.1016/S0387-7604(85)80048-6

B. Hagberg and P. Rasmussen, ???Forme fruste??? of rett syndrome - a case report, American Journal of Medical Genetics, vol.291, issue.S1, pp.175-191, 1986.
DOI : 10.1016/S0387-7604(85)80048-6

M. Heiskanen, L. Peltonen, and A. Palotie, Visual mapping by high resolution FISH, Trends in Genetics, vol.12, issue.10, pp.379-382, 1996.
DOI : 10.1016/0168-9525(96)30083-8

B. Hendrich, R. Plenge, and H. Willard, Identification and characterization of the human XIST gene promoter: implications for models of X chromosome inactivation, Nucleic Acids Research, vol.25, issue.13, pp.2661-2671, 1997.
DOI : 10.1093/nar/25.13.2661

H. Heng, J. Squire, and L. Tsui, High-resolution mapping of mammalian genes by in situ hybridization to free chromatin., Proceedings of the National Academy of Sciences, vol.89, issue.20, pp.9509-9513, 1992.
DOI : 10.1073/pnas.89.20.9509

R. Houlgatte, R. Mariage-samson, and S. Duprat, The Genexpress Index: a resource for gene discovery and the genic map of the human genome., Genome Research, vol.5, issue.3, pp.272-304, 1995.
DOI : 10.1101/gr.5.3.272

X. Hu, A. Burghes, and P. Ray, Partial gene duplication in Duchenne and Becker muscular dystrophies., Journal of Medical Genetics, vol.25, issue.6, pp.369-376, 1988.
DOI : 10.1136/jmg.25.6.369

P. Ioannou, C. Amemiya, and J. Garnes, A new bacteriophage P1- derived vector for the propagation of large human DNA fragments, Nature Genetics, vol.6, pp.84-89, 1994.

A. Ivens, G. Moore, and J. Chambers, X-linked cleft palate: the gene is localized between polymorphic DNA markers DXYS12 and DXS17, Human Genetics, vol.64, issue.4, pp.356-358, 1988.
DOI : 10.1007/BF00291735

J. , S. Dahl, R. Erickson, and L. , Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter->Xq13, 1996.

H. Journel, J. Melki, and C. Turleau, Rett phenotype with XI autosome translocation: possible mapping to the short arm of chromosome X, 1990.

W. Just, C. Geerkens, and K. Held, Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome, Human Genetics, vol.89, issue.2, pp.240-242, 1992.
DOI : 10.1007/BF00217131

G. Kay, G. Penny, and D. Patel, Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation, Cell, vol.72, issue.2, pp.171-182, 1993.
DOI : 10.1016/0092-8674(93)90658-D

L. Kunkel, Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy, Nature, vol.76, issue.6074, pp.73-77, 1986.
DOI : 10.1038/322073a0

Z. Larin, A. Monaco, and H. Lehrach, Yeast artificial chromosome libraries containing large inserts from mouse and human DNA., Proceedings of the National Academy of Sciences, vol.88, issue.10, pp.4123-4127, 1991.
DOI : 10.1073/pnas.88.10.4123

B. Lee, M. Godfrey, and E. Vitale, Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes, Nature, vol.352, issue.6333, pp.330-334, 1991.
DOI : 10.1038/352330a0

C. Lengauer, M. Speicher, and S. Popp, hybridization with multiple YAC clones and whole chromosome painting probes, Human Molecular Genetics, vol.2, issue.5, pp.505-512, 1993.
DOI : 10.1093/hmg/2.5.505

L. Li and D. Hamer, Recombination and allelic association in the Xq/Yq homology region, Human Molecular Genetics, vol.4, issue.11, pp.2013-2016, 1995.
DOI : 10.1093/hmg/4.11.2013

P. Lichter, T. Cremer, and C. Tang, Rapid detection of human chromosome 21 aberrations by in situ hybridization., Proceedings of the National Academy of Sciences, vol.85, issue.24, pp.9664-9668, 1988.
DOI : 10.1073/pnas.85.24.9664

P. Lichter, T. Cremer, and J. Borden, Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries, Human Genetics, vol.105, issue.3, pp.224-234, 1988.
DOI : 10.1128/MCB.7.1.349

M. Lyon, Gene Action in the X-chromosome of the Mouse (Mus musculus L.), Nature, vol.91, issue.4773, pp.372-373, 1961.
DOI : 10.1016/0014-4827(60)90023-9

K. Madan, Balanced structural changes involving the human X: Effect on sexual phenotype, Human Genetics, vol.63, issue.3, pp.216-221, 1983.
DOI : 10.1007/BF00284652

J. Mandel, H. Willard, and R. Nussbaum, Report of the committee on the genetic constitution of the X chromosome, Cytogenetic and Genome Research, vol.51, issue.1-4, pp.384-437, 1989.
DOI : 10.1159/000132801

M. Mannens, J. Hoovers, and E. Bleeker-wagemakers, The distal region of 11p13 and associated genetic diseases, Genomics, vol.11, issue.2, pp.284-293, 1991.
DOI : 10.1016/0888-7543(91)90134-Z

M. Marra, L. Hillier, and R. Waterston, Expressed sequence tags ??? ESTablishing bridges between genomes, Trends in Genetics, vol.14, issue.1, pp.4-7, 1998.
DOI : 10.1016/S0168-9525(97)01355-3

M. Mattei, J. Mattei, and S. Ayme, X-Autosome translocations: Cytogenetic characteristics and their consequences, Human Genetics, vol.61, issue.4, pp.295-309, 1982.
DOI : 10.1007/BF00276593

M. Mattei, N. Philip, and E. Passage, DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome, Human Genetics, vol.80, issue.3, pp.268-271, 1985.
DOI : 10.1007/BF00293038

G. Meroni, B. Franco, and N. Archidiacono, Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region, Human Molecular Genetics, vol.5, issue.4, pp.423-431, 1996.
DOI : 10.1093/hmg/5.4.423

B. Migeon, L. Shapiro, and R. Norum, Differential expression of steroid sulphatase locus on active and inactive human X chromosome, Nature, vol.46, issue.5886, pp.838-840, 1982.
DOI : 10.1038/299838a0

B. Migeon, M. Dunn, and G. Thomas, Studies of X inactivation and isodisomy in twins provide further evidence that X chromosome is not involved in Rett syndrome, American Journal of Human Genetics, vol.56, pp.647-653, 1995.

A. Miller, K. Gustashaw, and D. Wolff, Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22, Human Molecular Genetics, vol.4, issue.4, pp.731-739, 1995.
DOI : 10.1093/hmg/4.4.731

T. Mohandas and L. Shapiro, Factors involved in X-chromosome inactivation. Cytogenetics of the Mammalian X chromosome, Part A Basic mechanism of the X chromosome behavior, Progress and topics in cytogenetics 3A, pp.271-297, 1983.

J. Murray, D. Nishimura, and K. Buetow, Linkage of an autosomal dominant clefting syndrome, 1990.

K. Narahara, S. Kikkawa, and S. Kimira, Regional mapping of catalase and Wilms tumor?aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305?p1306, Human Genetics, vol.96, issue.2-3, pp.181-185, 1984.
DOI : 10.1007/BF00286597

S. Ohno, Evolution of Sex Chromosomes in Mammals, Annual Review of Genetics, vol.3, issue.1, pp.495-497, 1969.
DOI : 10.1146/annurev.ge.03.120169.002431

S. Olinski, B. Loop, and A. Dekosky, Chromosomal Mapping of the Human M6 Genes, Genomics, vol.33, issue.3, pp.532-536, 1996.
DOI : 10.1006/geno.1996.0231

T. Ozçelik, R. Lafreniere, and B. Archer, Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse, 1990.

B. Panasiuk, A. Midro, and B. Zadrozna-tolwinska, Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother, Clinical Genetics, vol.35, issue.suppl., pp.120-125, 1997.
DOI : 10.1016/S0387-7604(12)80193-8

I. Parra and B. Windle, High resolution visual mapping of stretched DNA by fluorescent hybridization, Nature Genetics, vol.12, issue.1, pp.17-21, 1993.
DOI : 10.1128/MCB.9.11.4903

M. Passos-buenos, B. Byth, and S. Rosenberg, Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: Intragenic heterogeneity or a new form of X-linked mental retardation?, American Journal of Medical Genetics, vol.38, issue.2, pp.172-175, 1993.
DOI : 10.1002/ajmg.1320460214

G. Penny, G. Kay, and S. Sheardown, Requirement for Xist in X chromosome inactivation, Nature, vol.379, issue.6561, pp.131-137, 1996.
DOI : 10.1038/379131a0

P. Perry and S. Wolff, New Giemsa method for the differential staining of sister chromatids, Nature, vol.70, issue.5471, pp.156-158, 1974.
DOI : 10.1038/251156a0

C. Philippe, F. Cremers, and C. M. , Physical Mapping of DNA Markers in the q13-q22 Region of the Human X Chromosome, Genomics, vol.17, issue.1, pp.147-152, 1993.
DOI : 10.1006/geno.1993.1296

C. Philippe, Cartographie physique du chromosome X humain, 1993.

C. Philippe, C. Arnould, and F. Sloan, A High-Resolution Interval Map of the q21 Region of the Human X Chromosome, Genomics, vol.27, issue.3, pp.539-543, 1995.
DOI : 10.1006/geno.1995.1089

D. Pinkel, T. Staume, and J. Gray, Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization., Proceedings of the National Academy of Sciences, vol.83, issue.9, pp.2934-2938, 1986.
DOI : 10.1073/pnas.83.9.2934

D. Pinkel, J. Landegent, and C. Collins, Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4., Proceedings of the National Academy of Sciences, vol.85, issue.23, pp.9138-9142, 1988.
DOI : 10.1073/pnas.85.23.9138

R. Plenge, B. Hendrich, and C. Schwartz, A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation, Nature Genetics, vol.22, issue.3, pp.353-356, 1997.
DOI : 10.1038/386275a0

V. Des-portes, J. Pinard, and P. Billuart, A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome, Cell, vol.92, issue.1, pp.51-61, 1998.
DOI : 10.1016/S0092-8674(00)80898-3

V. Ramesh, R. Eddy, and G. Bruns, Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes, Human Genetics, vol.36, issue.2, 1987.
DOI : 10.1007/BF00284906

G. Rappold, The pseudoautosomal regions of the human sex chromosomes, Human Genetics, vol.2, issue.4, pp.315-324, 1993.
DOI : 10.1101/SQB.1986.051.01.027

A. Rett, Ueber em eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter, Wienrisch Medizinal Wochenschrift, vol.116, pp.724-738, 1966.

R. Robledo, P. Melis, and F. Laficara, Further linkage evidence for localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region, American Journal of Medical Genetics, vol.18, issue.1, pp.107-112, 1996.
DOI : 10.1002/(SICI)1096-8628(19960712)64:1<107::AID-AJMG18>3.0.CO;2-R

J. Rommens, M. Iannuzzi, and B. Kerem, Identification of the cystic fibrosis gene: chromosome walking and jumping, Science, vol.245, issue.4922, pp.1059-1080, 1989.
DOI : 10.1126/science.2772657

M. Roseri, A. Goguel, and A. Martin, A 1.7-Mb YAC Contig around the Human BDNF Gene (11p13): Integration of the Physical, Genetic, and Cytogenetic Maps in Relation to WAGR Syndrome, Genomics, vol.24, issue.1, pp.69-77, 1994.
DOI : 10.1006/geno.1994.1583

B. Royer-pokora, L. Kunkel, and A. Monaco, Cloning the gene for an inherited human disorder???chronic granulomatous disease???on the basis of its chromosomal location, Nature, vol.38, issue.6074, pp.32-38, 1986.
DOI : 10.1042/bj2270783

S. Ryan, P. Chance, and C. Zou, Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing, Nature Genetics, vol.37, issue.1, pp.92-95, 1997.
DOI : 10.1006/geno.1995.1022

R. Saiki, S. Scharf, and F. Falcona, Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia, Science, vol.230, issue.4732, pp.1350-1354, 1985.
DOI : 10.1126/science.2999980

C. Sala, G. Arrigo, and T. G. , Eleven X Chromosome Breakpoints Associated with Premature Ovarian Failure (POF) Map to a 15-Mb YAC Contig Spanning Xq21, Genomics, vol.40, issue.1, pp.123-131, 1997.
DOI : 10.1006/geno.1996.4542

C. Samanns, R. Albrecht, and M. Neugebauer, Gene for non-specific X-linked mental retardation maps in the pericentromeric region, American Journal of Medical Genetics, vol.30, issue.2-3, pp.224-227, 1991.
DOI : 10.1002/ajmg.1320380210

G. Sarto, E. Therman, and K. Patau, X INACTIVATION IN MAN, Obstetrical & Gynecological Survey, vol.29, issue.1, pp.262-270, 1973.
DOI : 10.1097/00006254-197401000-00016

G. Scherer, W. Schempp, and C. Baccichetti, Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man, Human Genetics, vol.81, issue.3, pp.291-294, 1989.
DOI : 10.1007/BF00279008

M. Schmidt and D. Dusart, Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases, American Journal of Medical Genetics, vol.62, issue.2, pp.161-169, 1992.
DOI : 10.1016/0002-9394(80)90276-7

E. Schrock, S. Du-manoir, and T. Veldman, Multicolor Spectral Karyotyping of Human Chromosomes, Science, vol.273, issue.5274, pp.494-497, 1996.
DOI : 10.1126/science.273.5274.494

M. Seabright, A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMES, The Lancet, vol.298, issue.7731, pp.971-972, 1971.
DOI : 10.1016/S0140-6736(71)90287-X

N. Shanen, J. Roth-dahle, and F. Capozzoli, A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map, The American Journal of Human Genetics, vol.61, issue.3, pp.634-641, 1997.
DOI : 10.1086/515525

N. Shanen, S. Hofferbert, and G. Heidary, Molecular genetics of Rett syndrome, European Child and Adolescent Psychiatry, vol.6, issue.1, p.94, 1997.

S. Sheardon, S. Duthie, and C. Johnston, Stabilization of Xist RNA Mediates Initiation of X Chromosome Inactivation, Cell, vol.91, issue.1, pp.99-107, 1997.
DOI : 10.1016/S0092-8674(01)80012-X

H. Shizuya, B. Birren, and U. Kim, Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an Ffactor based vector, Proceedings National Academy of Sciences, pp.8794-8797, 1992.

R. Slim, J. Levilliers, and H. Ludecke, A Human Pseudoautosomal Gene Encodes the ANT3 ADP/ATP Translocase and Escapes X-Inactivation, Genomics, vol.16, issue.1, 1993.
DOI : 10.1006/geno.1993.1135

R. Slim, C. Machavoine, and A. Bernheim, Assignments of 37 YAC clones to R-banded chromosomes by fluorescent in situ hybridization, Cytogenetic and Genome Research, vol.65, issue.1-2, pp.104-107, 1995.
DOI : 10.1159/000133611

F. Sloan-béna, C. Philippe, and B. Leheup, Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH., Journal of Medical Genetics, vol.35, issue.2, pp.146-150, 1998.
DOI : 10.1136/jmg.35.2.146

E. Southern, Detection of specifie sequences among DNA fragments separated by gel electrophoresis, Journal of Molecular Biology, vol.88, pp.503-517, 1975.

M. Speicher, S. Ballard, and D. Ward, Karyotyping human chromosomes by combinatorial multi-fluor FISH, Nature Genetics, vol.9, issue.4, pp.368-375, 1996.
DOI : 10.1016/0165-0270(88)90130-6

P. Stanier, A. Forbes, and A. Arnason, The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Iceland kindred is between DXS326-DXYS1X, Cenomics, vol.17, pp.549-555, 1993.

C. Tariverdian, C. Kantner, and F. Vogel, A monozygotic twin pair with Rett syndrome, Human Cenetics, vol.75, pp.88-90, 1987.

K. Temple, M. Calvert, and D. Plint, Dominantly inherited cleft lip and palate in two families., Journal of Medical Genetics, vol.26, issue.6, pp.386-389, 1989.
DOI : 10.1136/jmg.26.6.386

E. Therman, R. Laxova, and B. Susman, The critical region on the human Xq, Human Genetics, vol.85, issue.5, pp.455-461, 1990.
DOI : 10.1007/BF00194216

N. Thomas, K. Davies, and T. Webb, Molecular genetic studies in familial Rett syndrome, European Child and Adolescent Psychiatry, vol.6, issue.1, p.95, 1997.

A. Verkerk, M. Pieretti, and J. Sutcliffe, Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome, Cell, vol.65, issue.5, pp.905-914, 1991.
DOI : 10.1016/0092-8674(91)90397-H

D. Warburton, De nove balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints, American Journal of Human Cenetics, vol.49, pp.995-1013, 1991.

J. Wiegant, T. Ried, and P. Nederlof, hybridisation with fluoresceinated DNA, Nucleic Acids Research, vol.19, issue.12, pp.3237-3241, 1991.
DOI : 10.1093/nar/19.12.3237

J. Wiegant, K. W. Mullenders, and L. , hybridization using DNA halo preparations, Human Molecular Genetics, vol.1, issue.8, 1992.
DOI : 10.1093/hmg/1.8.587

J. Wiegant, C. Wiesmeijer, and J. Hoovers, Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAs, Cytogenetic and Genome Research, vol.63, issue.1, pp.73-76, 1993.
DOI : 10.1159/000133507

H. Willard, X chromosome inactivation and X-linked mental retardation, American Journal of Medical Genetics, vol.57, issue.1, pp.21-26, 1996.
DOI : 10.1002/ajmg.1320570204

J. Wilson, M. Ferguson, and N. Jenkins, Transgenic mouse model of Xlinked cleft palate, Cell growth and differenciation, vol.4, pp.67-76, 1992.

D. Wolff, K. Gustashaw, and V. Zurcher, Deletions In Xq26, pp.3-27, 1997.

B. Wu, A. Milunski, and H. Wyandt, In Situ Hybridization applied to Waardenburg Syndrome, Cytogenetic and Genome Research, vol.63, issue.1, pp.29-32, 1993.
DOI : 10.1159/000133495

J. Yunis, High resolution of human chromosomes, Science, vol.191, issue.4233, pp.1268-1270, 1976.
DOI : 10.1126/science.1257746

A. Zinn, B. Ouyang, and R. J. , Del (X)(p21.2) in a mother and two daughters with variable ovarian function, Clinical Genetics, vol.367, issue.4, pp.235-239, 1997.
DOI : 10.1111/j.1399-0004.1997.tb02554.x

H. Zoghbi, D. Ledbetter, and R. Schultz, Ade novo X; 3 translocation in Rett syndrome, American Journal of Medical Genetics, vol.3, issue.1, pp.148-151, 1990.
DOI : 10.1016/S0387-7604(85)80047-4