A familial complex chromosome translocation resulting in duplication of 6p25

J.R. Vermeesch, R. Thoelen, Jean Pierre Fryns
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引用次数: 10

Abstract

We report on a girl with psychomotor retardation, severe speech developmental delay and mild dysmorphic features. Molecular cytogenetic analysis showed that the patient was carrier of an insertion (6)(p22.5→22.4) in chromosome 12. Analysis of the chromosomes of the mother revealed the presence of a complex chromosomal rearrangement. In addition to the insertion (6)(p22.5→22.4) in chromosome 12 and a pericentric inversion in chromosome 12, the 6p subtelomeric region was absent in the mother. This is, to our knowledge, the smallest pure duplication of chromosome 6p as well as the smallest cryptic subtelomeric 6pter deletion thus far reported.

导致6p25重复的家族性复杂染色体易位
我们报告一个女孩的精神运动迟缓,严重的语言发育迟缓和轻度畸形特征。分子细胞遗传学分析显示患者为12号染色体插入(6)(p22.5→22.4)的携带者。对母亲染色体的分析显示存在复杂的染色体重排。除了12号染色体的插入(6)(p22.5→22.4)和12号染色体的周中心倒置外,母亲没有6p亚端粒区。据我们所知,这是迄今为止报道的最小的6p染色体纯重复以及最小的隐性亚端粒6pter缺失。
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