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

Chun Hui Tsai, Daniel L. Van Dyke, Gerald L. Feldman

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)336-339
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume82
Issue number4
DOIs
StatePublished - Feb 21 1999

Keywords

  • 4q34.2 deletion
  • Cleft palate
  • VCFS-like syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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