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

44 Citations (Scopus)

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
Externally publishedYes

Fingerprint

DiGeorge Syndrome
Phenotype
Palate
Cleft Palate
Learning
Pulmonary Valve Stenosis
Atrial Heart Septal Defects
Cytogenetic Analysis
Ventricular Heart Septal Defects
Fluorescence In Situ Hybridization
Karyotype
Intellectual Disability
Fingers
Heart Diseases
Genes
Chromosome 4q- Syndrome

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Child with velocardiofacial syndrome and del (4)(q34.2) : Another critical region associated with a velocardiofacial syndrome-like phenotype. / Tsai, Chun Hui; Van Dyke, Daniel L.; Feldman, Gerald L.

In: American Journal of Medical Genetics, Vol. 82, No. 4, 21.02.1999, p. 336-339.

Research output: Contribution to journalArticle

@article{6c914a94229143859f6098e27f29a8d1,
title = "Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype",
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.",
keywords = "4q34.2 deletion, Cleft palate, VCFS-like syndrome",
author = "Tsai, {Chun Hui} and {Van Dyke}, {Daniel L.} and Feldman, {Gerald L.}",
year = "1999",
month = "2",
day = "21",
doi = "10.1002/(SICI)1096-8628(19990212)82:4<336::AID-AJMG11>3.0.CO;2-I",
language = "English (US)",
volume = "82",
pages = "336--339",
journal = "American Journal of Medical Genetics, Part A",
issn = "0148-7299",
publisher = "Wiley-Liss Inc.",
number = "4",

}

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

UR - http://www.scopus.com/inward/record.url?scp=0033590681&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033590681&partnerID=8YFLogxK

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

VL - 82

SP - 336

EP - 339

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 0148-7299

IS - 4

ER -