Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype

We report on a child with congenital heart disease (atrial septal defect, v entricular septal defect, pulmonic stenosis), submucosal cleft palate, hype rnasal speech, learning difficulties, and right fifth finger anomaly manife stations, consistent with velocardiofacial syndrome (VCFS); however, cytoge netic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deleti ons with a breakpoint distal to 4q34.2, no cardiac defects or cleft of pala te were reported. Our patient has a deletion of 4q34.2 to 4qter and has pal ate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, a nd that the critical region for more severe mental retardation on 4q may re side proximal to 4q34.2. These results suggest that a distal 4q deletion ca n lead to a phenotype similar to VCFS and emphasizes the importance of sear ching for other karyotype abnormalities when a VCFS-like phenotype is prese nt and a 22q deletion is not identified. Am. J. Med. Genet. 82:336-339, 199 9. (C) 1999 Wiley-Liss, Inc.