A de novo t (X;8)(p11.2; q24.3) demonstrating Cornelia de Lange syndrome phenotype


EGEMEN A., ULGER Z. , Ozkinay F. F. , GULEN F. , COGULU O.

GENETIC COUNSELING, vol.16, no.1, pp.27-30, 2005 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 1
  • Publication Date: 2005
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.27-30

Abstract

A de novo T (X,8)(p11.2, q24.3) demonstrating Cornelia De Lange Syndrome phenotype: Cornelia de Lange syndrome is a rare syndrome of hitherto unknown etiology. We present a 9-months old female patient with de novo t (X;8) (p11.2;q24.3) and Cornelia de Lange Syndrome phenotype. De novo t (X;8) (p11.2;q24.3) was not reported so far in Cornelia de Lange syndrome.