Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5) (p23;q33q35)

We describe an infant girl with an interstitial deletion of chromosome band s 5q33 to 5q35 inherited from a maternal interchromosomal insertion ins(8;5 )(p23;q33q35) which was demonstrated by fluorescent in situ hybridization w ith whole chromosome paints. Physical anomalies included hypertonicity, mic rocephaly, short neck, apparently low-set ears, micrognathia, camptodactyly , mild rocker bottom feet, and hammer toe. Cardiac anomalies included a lar ge ventricular septal defect, patent ductus arteriosus, pulmonary hypertens ion and hypoplastic right ventricle, She died at age 3 months. (C) 1999 Wil ey-Liss, Inc.