Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies
Yükleniyor...
Tarih
2006
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley-Liss
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(
Açıklama
Conference on European Human Genetics -- MAY 07, 2005 -- Prague, CZECH REPUBLIC
Beksac, Meral/0000-0003-1797-8657; Liehr, Thomas/0000-0003-1672-3054; Beksac, M.Sinan/0000-0001-6362-787X
Beksac, Meral/0000-0003-1797-8657; Liehr, Thomas/0000-0003-1672-3054; Beksac, M.Sinan/0000-0001-6362-787X
Anahtar Kelimeler
ring chromosome 4, Wolf-Hirschhorn syndrome (WHS), r(4)(, iris coloboma, cleft lip and palate, hypospadias and double urethral orifices, midgut malrotation, corpus callosum hypoplasia, multicolor banding (MCB), CGH analysis of chromosome 4
Kaynak
American Journal Of Medical Genetics Part A
WoS Q Değeri
Q3
Scopus Q Değeri
Q3
Cilt
140A
Sayı
6
Künye
closedAccess
