CHARGE ASSOCIATION IN A CHILD WITH DE-NOVO INVERTED DUPLICATION (14)(Q22-]Q24.3)

We report on a 4-1/2 year old girl with apparent CHARGE association wh o had a de novo inverted duplication (14)(q22-->24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unrem arkable and parental chromosomes were normal. Similarities between thi s and previously reported cases of 14q duplication suggest that a locu s for a gene or genes causing some of the anomalies of CHARGE associat ion may reside in the region 14q22 to 24.3. (C) 1995 Wiley-Liss, Inc.