Complex rearrangement of chromosome 7q21.13q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
Complex rearrangement of chromosome 7q21.13q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
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DOI：
10.1002/ajmg.a.32093
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发表时间：
2008-01-15
影响因子：
2
通讯作者：
Dallapiccola, Bruno
中科院分区：
文献类型：
--
作者：
Bernardini, Laura;Palka, Chiara;Dallapiccola, Bruno
具有两个以上断点的复杂染色体重排是罕见的。我们报告一名五岁女孩，因精神运动迟缓、右手和脚电裂、颅面畸形、腭裂、耳聋和法洛四联症而被评估。标准核型提示染色体7q染色体内有小的重复。染色体重排的特征是mBAND，揭示了相互间质易位t(7;8)（q21q22;q23q24）。FISH分析和阵列- cgh分析显示7q的顺中心倒置和7q21.13的微缺失。父母有正常的染色体。在本例患者中发现的缺失证实了外指耳聋候选区域（OMIM 220600）映射到7q21，并提示了该疾病的新候选基因。该患者还具有令人联想到毛鼻指骨综合征的面部特征，并有一个染色体断裂点涉及带8q24，这是该疾病的一个位点。此外，FOG1基因定位于8q23，并与法洛氏三联体患者的一个子集有关。我们认为8q的畸变可能导致了她面部和心脏的发现。(c) 2007 Wiley-Liss, Inc。
Complex chromosomal rearrangements with more than two breakpoints are rare. We report on a 5-year-old girl, evaluated because of psychomotor delay, ectroclactyly of right hand and feet, craniofacial dysmorphic features, cleft palate, deafness, and tetralogy of Fallot. A standard karyotype suggested a small intrachromosomal duplication of chromosome 7q. The chromosomal rearrangement was characterized by mBAND, which disclosed a reciprocal interstitial translocation t(7;8)(q21q22;q23q24). FISH analysis and array-CGH analysis showed a paracentric inversion of 7q and a microdeletion of 7q21.13. The parents had normal chromosomes. The deletion found in the present patient confirms that candidate region of ectrodactyly-deafness (OMIM 220600) maps to 7q21 and suggests new candidate genes for that disorder. This patient also had facial features reminiscent of tricho-rhino-phalangeal syndrome and one chromosome breakpoint involved band 8q24, a locus for this disorder. In addition, FOG1 gene maps to 8q23 and has been implicated in a subset of subjects with tretralogy of Fallot. We suggest that the aberration of 8q may have contributed to her facial and cardiac findings. (c) 2007 Wiley-Liss, Inc.