Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation.

Abstract

A dysmorphic newborn showed an interstitial deletion of the long arm of a chromosome 16 due to a balanced paternal insertional translocation 46,XY,ins(14;16)(q23;q13q22). The insertion was confirmed by chromosomal in situ suppression (CISS-) hybridization. Clinical features considered to be typical for a 16q- phenotype are demonstrated in this patient. Similar observations described in the literature are compared and discussed with reference to the phenocritical region.