Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review

✍ Scribed by Wilkie, A. O. M. ;Campbell, F. M. ;Daubeney, P. ;Grant, D. B. ;Daniels, R. J. ;Mullarkey, M. ;Affara, N. A. ;Fitchett, M. ;Huson, S. M.

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 459 KB
• Volume: 46
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320460527

✦ Synopsis

We describe 2 karyotypically male infants with terminal deletion of 1 O q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY, deI(lO)(q26.1)1 had female external genitalia; the other Baryotype 46,XY, -10, + der(l0)t (10;16)(q26.2;q21)1 had an intersex phenotype. Of 8 males previously reported with terminal 1 O q deletion as the major or only cytogenetic abnormality, 2 had an intersex phenotype, and the others all had combinations of cryptorchidism, micropenis, and hypospadias. Terminal 1 O q deletions appear to be strongly associated with abnormal male genital development, and should be specifically searched for in the cytogenetic workup of such cases.@ 1993 Wiley-Liss, Inc.