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首页> 外文期刊>Molecular syndromology >Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report
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Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report

机译：手部/脚部畸形与7q21.3微缺失相关的病例报告

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Split hand/foot malformation (SHFM) or ectrodactyly is a rare genetic condition affecting limb development. SHFM shows clinical and genetic heterogeneity. It can present as an isolated form or in combination with additional anomalies affecting the long bones (nonsyndromic form) or other organ systems including the craniofacial, genitourinary and ectodermal structures (syndromic ectrodactyly). This study reports a girl with SHFM who also exhibited developmental delay, mild dysmorphic facial features and sensorineural hearing loss. High-resolution banding analysis indicated an interstitial deletion within the 7q21 band. FISH using locus-specific BAC probes confirmed the microdeletion of 7q21.3. Chromosomal microarray analysis also revealed a microdeletion of 1.856 Mb in 7q21.3. However, a larger 8.44-Mb deletion involving bands 7q21.11q21.2 was observed, and the breakpoints were refined. The phenotype and the candidate genes underlying the pathogenesis of this disorder are discussed.
机译：手/足畸形或外ect裂是一种罕见的遗传病，会影响肢体发育。 SHFM显示临床和遗传异质性。它可以孤立的形式出现，也可以与影响长骨的其他异常现象（非综合征形式）或其他器官系统（包括颅面，泌尿生殖道和外胚层结构）（异常）结合在一起出现。这项研究报告了一个SHFM女孩，她还表现出发育延迟，轻度畸形的面部特征和感觉神经性听力丧失。高分辨率条带分析表明7q21带内有间隙缺失。使用基因座特异性BAC探针进行FISH证实了7q21.3的微缺失。染色体微阵列分析还显示在7q21.3中有1.856 Mb的微缺失。但是，观察到更大的8.44-Mb缺失，涉及带7q21.11q21.2，并且断点得到了完善。讨论了该疾病发病机理的表型和候选基因。

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