9号染色体短臂易位/重复至重复的4号染色体长臂上。
Translocation/duplication of 9p onto a duplicated 4q.
作者信息
Rivera H, Figuera L E, Vasquez A I
机构信息
División de Genetica, Instituto Mexicano del Seguro Social, Guadalajara.
出版信息
Genet Couns. 1992;3(4):201-3.
PMID:1472355
Abstract
A 5-month-old girl with the classical dysmorphism of the 9p trisomy syndrome and a severe heart defect was found to have an unbalanced translocation of 9pter-->p22 onto q35 of a chromosome 4 with an inverted duplication of q32-->q35. This concurrence of two de novo rearrangements suggests that the breakpoint at 4q35 not only participated in the translocation but also predisposed to the segmental duplication of 4q.
摘要
一名患有9p三体综合征典型畸形和严重心脏缺陷的5个月大女孩，被发现存在从9p末端到p22的片段不平衡易位至4号染色体的q35，并伴有q32到q35的反向重复。这两种新发重排的同时出现表明，4q35处的断点不仅参与了易位，还促使了4q的节段性重复。
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