The 12q14 microdeletion syndrome; 6 new cases confirming the role of HMGA2 in growth

ABSTRACT We report 6 patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations performed on children with developmental delay and dysmorphism in 3 diagnostic testing centres; 6 positive cases gives a frequency of 1 in 423 for this deletion syndrome. The deleted re...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	European journal of human genetics : EJHG 2011-01
Hauptverfasser:	Lynch, Sally Ann, Foulds, Nicola, Thuresson, Ann-Charlotte, Collins, Amanda, Annerén, Göran, Hedberg, Bernt-Oves, Delaney, Carol Ann, Iremonger, James, Murray, Caroline M, Crolla, John A, Costigan, Colm, Lam, Wayne, Fitzpatrick, David, Regan, Regina, Ennis, Sean, Sharkey, Freddie H
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!