COMPLETE AND PARTIAL XY SEX REVERSAL ASSOCIATED WITH TERMINAL DELETION OF 10Q - REPORT OF 2 CASES AND LITERATURE-REVIEW

We describe 2 karyotypically male infants with terminal deletion of 10 q and mental retardation, multiple phenotypic anomalies and abnormal g enitalia. One [karyotype 46,XY, del(10)(q26.1)] had female external ge nitalia; the other [karyotype 46,XY,-10,+der(10)t (10;16)(q26.2;q21)] had an intersex phenotype. Of 8 males previously reported with termina l 10q deletion as the major or only cytogenetic abnormality, 2 had an intersex phenotype, and the others all had combinations of cryptorchid ism, micropenis, and hypospadias. Terminal 10q deletions appear to be strongly associated with abnormal male genital development, and should be specifically searched for in the cytogenetic workup of such cases.