A de novo t (X;8)(p11.2; q24.3) demonstrating Cornelia de Lange syndrome phenotype
Articles > Article · 2005
Authors: A EGEMEN, Zülal ÜLGER TUTAR, Feriştah Ferda ÖZKINAY, Figen GÜLEN, Muhsin Özgür ÇOĞULU
GENETIC COUNSELING, Journal Indexed in SCI Expanded, International, 2005, vol 16, pp 27-30
Summary
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.