A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.
Makaleler > Tam Makale · 2005
Yazarlar: A Egemen, Z Ulger, Feriştah Ferda ÖZKINAY, F Gulen, Muhsin Özgür ÇOĞULU
Genetic counseling (Geneva, Switzerland), Uluslararası, 2005, cilt 16, ss 27-30
Özet
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.