Molecular analysis of 9p deletions associated with XY sex reversal: Refining the localization of a sex-determining gene to the tip of the chromosome [4]

American Journal of Human Genetics

Volumn 63, Issue 3, 1998, Pages 905-908

  Guioli, S ^a   Schmitt, K ^a   Critcher, R ^a   Bouzyk, M ^a   Spurr, N K ^a   Ogata, T ^a   Hoo, J J ^a   Pinsky, L ^a   Gimelli, G ^a   Pasztor, L ^a   Goodfellow, P N ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 9P; CHROMOSOME ANALYSIS; GENE DELETION; GENE MAPPING; HAPLOTYPE; HETEROZYGOSITY LOSS; HUMAN; LETTER; PRIORITY JOURNAL; SEX DIFFERENTIATION; SEX TRANSFORMATION; SEXUAL DEVELOPMENT;

EID: 0032231391     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302017     Document Type: Letter

References (17)

1. B Bardoni E Zanaria S Guioli G Floridia KC Worley G Tonini E Ferrante A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal Nat Genet 7 1994 497 501
2. ML Begleiter C Zalles ID Schwartz DJ Harris LM Pasztor Multiple congenital anomalies and ambiguous genitalia in a child with trisomy 7q Am J Hum Genet Suppl 57 1995 A107
3. CP Bennett Z Docherty SA Robb P Ramani JR Hawkins D Grant Deletion 9p and sex reversal J Med Genet 30 1993 518 520
4. M Bouzyk SP Bryant K Schmitt PG Goodfellow R Ekong NK Spurr Construction of a radiation hybrid map of chromosome 9p Genomics 34 1996 187 192
5. C Dib S Fauré C Fizames D Samson N Drouot A Vignal P Millasseau A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 380 1996 152 154
6. CE Ford KW Jones Polani PE De Almeida JC JH Brigg A sex chromosome anomaly in a case of gonadal sex dysgenesis (Turner's syndrome) Lancet 1 1959 711 713
7. JJ Hoo IS Salafsky CC Lin L Pinsky Possible location of a recessive testis forming gene on 9p24 Am J Hum Genet Suppl 45 1989 A78
8. JL Huret C Leonard B Forestier MO Rethoré J Lejeune Eleven new cases of del(9p) and features from 80 cases J Med Genet 25 1988 741 749
9. PA Jacobs JA Strong A case of human intersexuality having a possible XXY sex determining mechanism Nature 183 1959 302 303
10. A Jost B Vigier J Prepin J Perchellet Studies on sex differentiation in mammals Recent Prog Horm Res 29 1973 1 41
11. C Kwok PA Weller S Guioli JW Foster S Mansour O Zuffardi HH Punnett Mutations in SOX9 , the gene responsible for campomelic dysplasia and autosomal sex reversal Am J Hum Genet 57 1995 1028 1036
12. M McDonald W Flejter S Sheldon M Putzi J Gorski XY sex reversal and gonadal dysgenesis due to 9p24 monosomy Am J Med Genet 73 1997 321 326
13. J Meyer P Sudbeck M Held T Wagner M Schmitz F Bricarelli E Eggermont Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations Hum Mol Genet 6 1997 91 98
14. T Ogata K Muroya N Matsuo J Hata Y Fukushima Y Suzuki Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p J Med Genet 34 1997 331 334
15. CS Raymond CE Shamu MM Shen KJ Seifert B Hirsch J Hodgkin D Zarkower Evidence for evolutionary conservation of sex-determining genes Nature 391 1998 691 695
16. A Schafer P Goodfellow Sex determination in humans Bioessays 18 1996 955 963
17. R Veitia M Nunes R Brauner M Doco-Fenzy O Joanny-Flinois F Jaubert S Lortat-Jacob Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1 Genomics 41 1997 271 274