Sex reversal in a child with the karyotype 46,XY, dup (1) (p22.3p32.3)

Clinical Genetics

Volumn 49, Issue 5, 1996, Pages 271-273

  Wieacker, P ^a,c   Missbach, D ^a   Jakubiczka, S ^a   Borgmann, S ^b   Albers, N ^b  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

Duplication 1p; Sex reversal

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1P; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CRYPTORCHISM; FEMALE; GENE LOCUS; GENITAL MALFORMATION; HUMAN; HUMAN CELL; KARYOTYPE 46,XY; MENTAL DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; SEX DIFFERENTIATION; SEX DIFFERENTIATION DISORDER;

EID: 0030013095     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb03786.x     Document Type: Article

References (11)

1. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ERB, Fraccaro M, Zuffardi O, Camerino G. A dosage sensitive locus at chromosome Xp21 is involved in male-to-female sex reversal. Nature Genet 1994: 7: 497-501.
2. Bennett CP, Docherty Z, Robbs SA, Ramani P, Hawkins JR, Grant D. Deletion 9p and sex reversal. J Med Genet 1993: 30: 518-520.
3. Cousineau AJ, Higgins JV, Hackel E, Waterman DF, Toriello H, Carlile PA, Cook PJL. Cytogenetic recognition of chromosomal duplication (dup(1) (p31.4 - p22.1)) and the detection of three different alleles at the PGM1 locus. Ann Hum Genet 1981: 45: 337-340.
4. Elejalde BR, Opitz JM, De Elejalde MM, Gilbert EF, Abellara M, Meisner L, Lebel RR, Hartigan JM. Tandem dup(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. Am J Med Genet 1984: 17: 723-730.
5. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994: 372: 525-530.
6. Hawkins JR. Sex determination. Hum Molec Genet 1994: 3: 1463-1467.
7. König A, Jakubiczka S, Wieacker P, Schlösser HW, Gessler M. Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome. Hum Molec Genet 1993: 2: 1967-1968.
8. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for SRY. Nature 1991: 351: 117-121.
9. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths B, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow P. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990: 346: 240-244.
10. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994: 79: 1111-1120.
11. Wilkie AOM, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. Complete and partial XY sex reversal associated with terminal deletion of 10q - report of two cases and literature review. Am J Med Genet 1993: 46: 597-600.