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22q13 Deletion Syndrome: n Update and Review for the Primary Pediatrician.
- Source :
-
Clinical Pediatrics . Jan/Feb2004, Vol. 43 Issue 1, p43-53. 11p. 13 Black and White Photographs, 1 Chart. - Publication Year :
- 2004
-
Abstract
- Recent advances in genetic testing can help to provide a specific diagnosis to children born with syndromes that result in congenital anomalies and developmental delay. One such emerging condition is the 22q13 deletion syndrome. With the introduction of subtelomeric fluorescencein-situ hybridization (FISH) analysis, the 22q13 deletion has become recognized as a relatively widespread and underdiagnosed cause of mental retardation. Primary-care physicians play an important role in the care of children with 22q13 deletion syndrome, from suspecting the diagnosis in a developmentally delayed child through the medical, developmental, and behavioral aspects of their care. Furthermore, they serve as a valuable source of support and advocacy for the family and a resource for other care providers. The remainder of this article addresses the current state of knowledge regarding 22q13 deletion syndrome and offers the primary-care physician a framework in which to provide care and information. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00099228
- Volume :
- 43
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Clinical Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 12026771
- Full Text :
- https://doi.org/10.1177/000992280404300106