UNIQUE DE-NOVO INTERSTITIAL DELETION OF CHROMOSOME-17, DEL(17) (Q23.2Q24.3) IN A FEMALE NEWBORN WITH MULTIPLE CONGENITAL-ANOMALIES

We describe a newborn with a novel interstitial deletion of the long a rm of chromosome 17 [del (17) (q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe grow th retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patie nt's phenotype was compared to two other reported patients with deleti on 17q with minor clinical overlap consistent with a unique deletion. (C) 1995 Wiley-Liss, Inc.