A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith–Wiedemann syndrome (BWS) characterized by overgrowth and Silver–Russell syndrome (SRS) associated with growth retardation. In a small group of patients with BWS and SRS, copy number variations (CNVs) invo...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics. Part A 2017-01, Vol.173 (1), p.72-78
Hauptverfasser:	Jurkiewicz, Dorota, Kugaudo, Monika, Skórka, Agata, Śmigiel, Robert, Smyk, Marta, Ciara, Elżbieta, Chrzanowska, Krystyna, Krajewska‐Walasek, Małgorzata
Format:	Artikel
Sprache:	eng
Schlagworte:	11p15.5 imprinting region Beckwith-Wiedemann Syndrome - diagnosis Beckwith-Wiedemann Syndrome - genetics Beckwith–Wiedemann syndrome Child, Preschool Chromosomes, Human, Pair 11 Comparative Genomic Hybridization DNA Copy Number Variations DNA Methylation Female Gene Amplification Genetic Association Studies Genomic Imprinting Humans IGF2/H19 domain triplication Infant Insulin-Like Growth Factor II - genetics Male Microsatellite Repeats Models, Genetic Pedigree Phenotype RNA, Long Noncoding - genetics Silver-Russell Syndrome - diagnosis Silver-Russell Syndrome - genetics Silver–Russell syndrome
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!