Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.

摘要

Distal lOq deletions occurring de novo or associated with familial translocations and ring chromosomes have been described in the literature. Most of these deletions have breakpoints at 10q25 or 10q26 and are associated with a phenotype that includes facial dysmorphism, postnatal growth retardation, developmental and mental retardation, hypotonia, digital anomalies, congenital heart defects and urogenital anomalies. Additionally, terminal lOq deletions are often associated with abnormal male genital development including complete sex reversal [Wilkie et al, 1993; Chung et al, 1998] and various degrees of ambiguous genitalia [Brusnicky et al., 1986; Fryns et al., 1989; Wulfsberg et al., 1989; Wilkie et al., 1993; Chen et al., 20051.