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We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY, del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY,-10,+der(10)t (10;16)(q26.2;q21)] had an intersex phenotype. Of 8 males previously reported with terminal 10q 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 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.

Original publication

DOI

10.1002/ajmg.1320460527

Type

Journal article

Journal

Am J Med Genet

Publication Date

15/06/1993

Volume

46

Pages

597 - 600

Keywords

Chromosome Deletion, Chromosomes, Human, Pair 10, Disorders of Sex Development, Humans, Infant, Infant, Newborn, Male, Sex Differentiation