VELO-CARDIO-FACIAL AND PARTIAL DIGEORGE PHENOTYPE IN A CHILD WITH INTERSTITIAL DELETION AT 10P13 - IMPLICATIONS FOR CYTOGENETICS AND MOLECULAR-BIOLOGY

We report on a female with a interstitial deletion of 10p13 and a phen otype similar to that seen with the 22q deletion syndromes (DiGeorge/v elo-cardio-facial). She had a posterior cleft palate, perimembranous v entricular septal defect, dyscoordinate swallowing, T-cell subset abno rmalities, small ears, maxillary and mandibular hypoplasia, broad nasa l bridge, deficient alae nasi, contractures of fingers and development al delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who d o not prove to be deleted on 22q are candidates for a 10p deletion. (C ) 1996 Wiley-Liss, Inc.