Anal Atresia, Hypospadias, And Penoscrotal Inversion

An association of anal atresia with penoscrotal inversion ('shawl scrotum') and hypospadias in males or with biseptate uterus in females is common for persons with distal deletion of 13q, but relatively uncommon for persons with normal karyotype. Bartsch et al. (1996) described 2 unrelated males with malformations of the anogenital region and deletions of 13q32.2qter and 13q32q34, respectively. Bartsch et al. (1996) concluded that segment 13q32.2q34 must harbor one or more developmental genes that produce anogenital anomalies due to the loss of normal homozygosity. Deletion of the same segment of chromosome 13 has been found in other patients with these abnormalities (Carmichael et al., 1977; Vittu et al., 1989; Brown et al., 1993).