A 6 Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features
A 6 Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features
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DOI：
10.1016/j.ejmg.2006.11.004
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发表时间：
2007-03-01
影响因子：
1.9
通讯作者：
Rosenberg, C.
中科院分区：
文献类型：
--
作者：
Hoffer, M. J. V.;Hilhorst-Hofstee, Y.;Rosenberg, C.
对复杂染色体重排 (CCR) 的高分辨率分析表明，在具有异常表型的个体中，并非所有基于 G 带的看似平衡的 CCR 在断点水平上都是完全平衡的。在此，我们报告了一名 6 个月大女孩体内存在的涉及 2、3 和 5 号染色体的明显平衡的从头 CCR。由于严重的精神运动性迟缓、独特的畸形特征和小头畸形，她被转诊进行遗传评估。对患者 DNA 进行的 1 Mb 分辨率阵列 CGH 分析显示，2 号染色体有约 6 Mb 的缺失。FISH 分析显示，在易位断点处的 2q22 条带中发现了缺失区间，而已知与 Mowat-Wilson 综合征有关的 ZFHX1B 基因位于该缺失区间内。据我们所知，这是第一例复杂染色体的病例 与 Mowat-Wilson 综合征相关的重排。我们的数据说明了对患有不明原因的精神运动迟缓和/或其他临床特征的患者进行明显平衡的染色体重排的高分辨率研究的重要作用，并且应有助于我们理解染色体重排所涉及的机制。 (c) 2006 年 Elsevier Masson SAS。版权所有。
High-resolution analyses of complex chromosome rearrangements (CCR) have demonstrated in individuals with abnormal phenotypes that not all seemingly balanced CCRs based on G-banding are completely balanced at breakpoint level. Here we report on an apparently balanced de novo CCR involving chromosomes 2, 3 and 5 present in a 6-month-old girl. She was referred for genetic evaluation because of severe psychomotor retardation, distinctive dysmorphic features and microcephaly. A 1 Mb resolution array-CGH analysis of DNA from the patient revealed a deletion of about 6 Mb for chromosome 2. FISH analysis showed that the deletion interval found in band 2q22 mapped at the translocation breakpoint, and that the ZFHX1B gene, which is known to be involved in the Mowat-Wilson syndrome, is located within the deletion interval.To our knowledge this is the first case of a complex chromosomal rearrangement associated with Mowat-Wilson syndrome. Our data illustrate the important role for high-resolution investigation of apparently balanced chromosome rearrangements in patients with unexplained psychomotor retardation and/or other clinical features, and should contribute to our understanding of the mechanisms involved in chromosome rearrangement. (c) 2006 Elsevier Masson SAS. All rights reserved.