title: Common genetic and epigenetic syndromes.
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.
authors.affiliation: Atlantic Health System, Morristown, NJ, USA; Albany Medical Center, Albany, NY, USA. Electronic address: Darius.adams@atlantichealth.org.
authors.forename: Darius J
authors.initials: DJ
authors.lastname: Adams
authors.affiliation: Albany Medical Center, Albany, NY, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Clark
mesh_terms: D016738:Alagille Syndrome / Q000175:diagnosis / Q000235:genetics; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000175:diagnosis / Q000235:genetics; D019175:DNA Methylation; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis; D044127:Epigenesis, Genetic; D005817:Genetic Counseling; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics; D058496:Smith-Magenis Syndrome / Q000175:diagnosis / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics; D017624:WAGR Syndrome / Q000175:diagnosis / Q000235:genetics; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics
keywords: Epigenetic; Genetic; Imprinting; Microdeletion; Syndrome