Common genetic and epigenetic syndromes

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

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.

Publication types

  • Review

MeSH terms

  • Alagille Syndrome / diagnosis
  • Alagille Syndrome / genetics
  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics
  • Beckwith-Wiedemann Syndrome / diagnosis
  • Beckwith-Wiedemann Syndrome / genetics
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18
  • Classical Lissencephalies and Subcortical Band Heterotopias / diagnosis
  • Classical Lissencephalies and Subcortical Band Heterotopias / genetics
  • DNA Methylation
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / genetics
  • Down Syndrome / diagnosis
  • Epigenesis, Genetic*
  • Genetic Counseling
  • Humans
  • Klinefelter Syndrome / diagnosis
  • Klinefelter Syndrome / genetics
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics
  • Smith-Magenis Syndrome / diagnosis
  • Smith-Magenis Syndrome / genetics
  • Trisomy / diagnosis
  • Trisomy 13 Syndrome
  • Trisomy 18 Syndrome
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics
  • WAGR Syndrome / diagnosis
  • WAGR Syndrome / genetics
  • Williams Syndrome / diagnosis
  • Williams Syndrome / genetics