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Pediatr Clin North Am. 2015 Apr;62(2):411-26. doi: 10.1016/j.pcl.2014.11.005. Epub 2015 Jan 22.

Common genetic and epigenetic syndromes.

Author information

1
Atlantic Health System, Morristown, NJ, USA; Albany Medical Center, Albany, NY, USA. Electronic address: Darius.adams@atlantichealth.org.
2
Albany Medical Center, Albany, NY, USA.

Abstract

Cytogenetic anomalies should be considered in individuals with multiple congenital anomalies. DNA methylation analysis is the most sensitive initial test in evaluating for Prader-Willi and Angelman syndromes. The timely identification of cytogenetic anomalies allows for prompt initiation of early intervention services to maximize the potential of every individual as they grow older. Although many of these conditions are rare, keeping them in mind can have a profound impact on the clinical course of affected individuals. This article reviews some of the more common genetic syndromes.

KEYWORDS:

Epigenetic; Genetic; Imprinting; Microdeletion; Syndrome

PMID:
25836705
DOI:
10.1016/j.pcl.2014.11.005
[Indexed for MEDLINE]

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