PULMONARY-HYPERTENSION AND TRISOMY-16

An infant girl, born small for gestational age, with abnormal single c reases on the fifth digits, subsequent severe developmental delay, hyp ertelorism, bilateral equinovalgus deformities, grade IV genitourinary reflux and mild right hydronephrosis, was found to have an inverted d uplication of the short arm of chromosome 16 [46,XX; inv dup (16) (p 1 3.3 --> p 11.2]. The cardiac anomalies included a large perimembranous ventricular septal defect (VSD) and a moderate-sized atrial septal de fect (ASD), Cardiac catheterization at 6 months of age revealed system ic level pulmonary artery pressure, bilateral pulmonary venous desatur ation, and in room air a pulmonary/systemic blood flow ratio (Qp/Qs) o f 0.8:1.0, which did not change significantly with administration of o xygen and nitric oxide, To our knowledge, this is the first descriptio n of early nonreactive pulmonary vascular disease in a patient with du plication 16p and a large VSD.