Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
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DOI：
10.1002/ajmg.a.31425
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发表时间：
2006-10-15
影响因子：
2
通讯作者：
Skovby, Flemming
中科院分区：
文献类型：
--
作者：
Bisgaard, Anne-Marie;Kirchhoff, Maria;Skovby, Flemming
随着分子细胞遗传学方法的改进，精神发育迟滞(MR)和畸形患者的染色体异常的检测越来越多。我们报告了6名患者，他们详细描述了常规细胞遗传学检测到的染色体异常(4个易位，1个倒位，1个缺失)，在这些患者中，中期CGH显示出不涉及最初检测到的重排的失衡。用实时荧光定量聚合酶链式反应对检测到的异常进行验证。对4例患儿的父母进行了CGH调查。基因组筛选发现2q33.2-q34、3p21、4q12-q13.1、6q25、13q22.2-q31.1和14q12的间隙缺失。估计的最小缺失大小在2.65到9.27 Mb之间。CGH分析没有发现与倒位或易位的断点共存的不平衡。6q基因缺失包括ESR1，ESR1基因的多态与成人身高的变异有关。已知与皮质发育相关的FOXG1B位于14Q缺失。这些结果表明，对常规核型异常的表型患者进行全基因组分子细胞遗传学分析可以发现显微染色体异常患者的隐性分子细胞遗传学异常，这些数据提供了更多具有临床意义的信息。(C)2006年Wiley-Liss，Inc.
The detection of chromosomal abnormalities in patients with mental retardation (MR) and dysmorphic features increases with improvements of molecular cytogenetic methods. We report on six patients referred for detailed characterization of chromosomal abnormalities (four translocations, one inversion, one deletion) detected by conventional cytogenetics, in whom metaphase CGH revealed imbalances not involved in the initially detected rearrangements. The detected abnormalities were validated by real-time PCR. Parents were investigated by CGH in four cases. The genomic screening revealed interstitial deletions of 2q33.2-q34, 3p21, 4q12-q13.1, 6q25, 13q22.2-q31.1, and 14q12. The estimated minimum sizes of the deletions ranged from 2.65 to 9.27 Mb. The CGH assay did not reveal imbalances that colocalized with the breakpoints of the inversion or the translocations. The deletion of 6q included ESR1, in which polymorphisms are associated with variation of adult height. FOXG1B, known to be involved in cortical development, was located in the 14q deletion. The results illustrate that whole-genome molecular cytogenetic analysis of phenotypically affected patients with abnormal conventional karyotypes may detect inapparent molecular cytogenetic abnormalities in patients with microscopic chromosomal abnormalities and that these data provide additional information of clinical importance. (c) 2006 Wiley-Liss, Inc.