A PATIENT WITH INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-3(PTER-]P21.2 /P12-]QTER) AND A CHARGE-LIKE PHENOTYPE/

We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter --> p21.2::p12 --> qter) and clin ical findings typical of proximal 3p deletion together with coloboma o f iris, heart defect, choanal atresia, retardation of growth and devel opment, genital hypoplasia, and ear anomalies, Family history was unre markable and parental chromosomes were normal, The clinical manifestat ions of the patient are compared with those of 10 patients previously described with a proximal 3p deletion, The additional CHARGE-like phen otype is discussed. (C) 1997 Wiley-Liss, Inc.