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, cilt.16, ss.27-30, 2005 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 16 Konu: 1
  • Basım Tarihi: 2005
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: 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.