• A male infant showed features of the Prader-Willi syndrome (including profound hypotonia, cryptorchidism, and mildly dysmorphic facial appearance) but also had additional multiple malformations (congenital heart disease, unilateral renal malmigration, and bifid uvula). A deletion of the long arm of chromosome 15, larger than that usually demonstrated in children with Prader Willi syndrome, was found. The cytogenetic findings suggest that the infant's hypotonia and cryptorchidism are explicable on the basis of the portion of the deletion usually associated with Prader-Willi syndrome (q11 to q12) but that his other features could be secondary to effects of the more distal region of the deleted segment (q13 to q15).
(Am J Dis Child 1983;137:1087-1089)
Pauli RM, Meisner LF, Szmanda RJ. 'Expanded' Prader-Willi Syndrome in a Boy With an Unusual 15q Chromosome Deletion. Am J Dis Child. 1983;137(11):1087-1089. doi:10.1001/archpedi.1983.02140370047015