Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate
Küçük Resim Yok
Tarih
2007
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
We describe a male neonate with a duplication of4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and secundum type atrial septal defect.
Açıklama
WOS: 000248411700001
PubMed: 17710868
PubMed: 17710868
Anahtar Kelimeler
4q trisomy, duplication of 4q, unbalanced translocation of 4q
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
18
Sayı
2
