Format

Send to:

Choose Destination
See comment in PubMed Commons below
Clin Perinatol. 2005 Dec;32(4):963-78, ix-x.

DiGeorge syndrome: new insights.

Author information

  • 1Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Abramson Research Center 702A, 3615 Civic Center Boulevard, Philadelphia, PA 19104-4318, USA. goldmuntz@email.chop.edu

Abstract

Most patients with the clinical features of DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes share a common genetic cause, namely, a deletion of chromosome 22q11, and define the most common deletion syndrome known at this time. The clinical features of the 22q11 deletion syndrome are highly variable between individuals; some have subtle findings, whereas others are severely affected. The most common clinical features include specific types of congenital heart disease, hypocalcemia, immunodeficiency, facial dysmorphia, palate anomalies, velopharyngeal dysfunction, renal anomalies, and speech and feeding disorders as well as neurocognitive, behavioral, and psychiatric disorders. A significant number of patients with tetralogy of Fallot, truncus arteriosus, an interrupted aortic arch, isolated aortic arch anomalies, and perimembranous ventricular septal defects have a 22q11 deletion. Routine testing for a 22q11 deletion in this subset of patients should be considered to provide anticipatory medical intervention and appropriate family counseling.

PMID:
16325672
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk