[因父源易位（4；5）（q35；p12）导致的5号染色体短臂三体]
[Trisomy 5p due to paternal translocation (4;5) (q35;p12)].
作者信息
Menéndez I, Casaña H
机构信息
Departamento de Genética Clínica, Hospital Pediátrico Docente William Soler, La Habana, Cuba.
出版信息
Bol Med Hosp Infant Mex. 1993 Mar;50(3):194-6.
PMID:8442884
Abstract
A ten month-old boy had a 5p trisomy secondary to a paternal t(4;5) (p35;p12) translocation. The main stigmata were macrocranium, hydrocephaly, coloboma of the right iris, atrial septal defect, talipes equinovarus, and psychomotor retardation. Overall, the clinical picture was characteristic of the 5p trisomy that includes the band 5p13.
摘要
一名10个月大的男孩因父亲的t(4;5)(p35;p12)易位而患有5号染色体三体综合征。主要体征为巨头畸形、脑积水、右眼虹膜缺损、房间隔缺损、马蹄内翻足和精神运动发育迟缓。总体而言，临床表现具有包括5p13带的5号染色体三体综合征的特征。
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