A de novo t (X;8)(p11.2; q24.3) demonstrating Cornelia de Lange syndrome phenotype
Makaleler > Tam Makale · 2005
Yazarlar: A EGEMEN, Zülal ÜLGER TUTAR, Feriştah Ferda ÖZKINAY, Figen GÜLEN, Muhsin Özgür ÇOĞULU
GENETIC COUNSELING, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2005, cilt 16, ss 27-30
Özet
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.