TY - JOUR
T1 - Child with velocardiofacial syndrome and del (4)(q34.2)
T2 - Another critical region associated with a velocardiofacial syndrome-like phenotype
AU - Tsai, Chun Hui
AU - Van Dyke, Daniel L.
AU - Feldman, Gerald L.
PY - 1999/2/21
Y1 - 1999/2/21
N2 - We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic 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 deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.
AB - We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic 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 deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.
KW - 4q34.2 deletion
KW - Cleft palate
KW - VCFS-like syndrome
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U2 - 10.1002/(SICI)1096-8628(19990212)82:4<336::AID-AJMG11>3.0.CO;2-I
DO - 10.1002/(SICI)1096-8628(19990212)82:4<336::AID-AJMG11>3.0.CO;2-I
M3 - Article
C2 - 10051168
AN - SCOPUS:0033590681
SN - 0148-7299
VL - 82
SP - 336
EP - 339
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 4
ER -