A de novo t (X;8)(p11.2; q24.3) demonstrating Cornelia de Lange Syndrome phenotype
Küçük Resim Yok
Tarih
2005
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
Cornelia de Lange syndrome, t (X;8), X-autosomal translocation
Kaynak
Genetic Counseling
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
16
Sayı
1
