Trisomy 6qter resulting from a familial (6;10) (q23;q26) translocation.
作者信息
Enriquez-Guerra M A, Rivera H, Moller M, Castillo-Sanchez H, Cantu J M
出版信息
J Genet Hum. 1986 Aug;34(3-4):327-30.
PMID:3760836
Abstract
An infant deceased at 2 months of age was found to have a 46,XY,-10, +der(10),t (6;10) (q23;q26) mat karyotype. Since the clinical findings were similar to those of the trisomy 6qter syndrome, the present observation agrees with the assignment of the 6q23----qter segment as the pathogenetic determiner of this entity.
摘要
Zotero 插件