Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family
Küçük Resim Yok
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
VERSITA
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Distal trisomy 10q is a well delineated but a rare syndrome with characteristic phenotypic features. We present clinical and cytogenetic data on a 7 day-old girl with distal 10q trisomy (10q24 -> qter), due to maternal t(10.22) reciprocal translocation. Her karyotype showed an unbalanced translocation between chromosomes 10 and 22, resulting in trisomy of the distal part of the long arm of chromosome 10q24.
Açıklama
Anahtar Kelimeler
Distal trisomy 10q, Facial dysmorphism, Congenital malformations, Familial reciprocal translocations
Kaynak
CENTRAL EUROPEAN JOURNAL OF MEDICINE
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
7
Sayı
3
