De novo trisomy 16p11.2-qter: Report of an infant

We report on a four-month-old girl with a de novo trisomy 16q [47,XX,+del(1 6)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,te116q+, tell6p-)]. She had mino r facial anomalies, limb anomalies, urogenital abnormalities, and severe ca rdiovascular defects. Autopsy confirmed left hypoplastic lung, total anomal ous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilater al hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia , Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin. Am. J. Med, Gen et, 92:308-310, 2000, (C) 2000 Wiley-Liss, Inc.