合并染色体易碎性的孤立性先天性匿名症

İrfan Özyazgan , Işılay Özyazgan , Munis Dündar
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引用次数: 3

摘要

无任何相关表型障碍的孤立无甲是先天性指甲疾病中最罕见的异常之一。手脚的部分或全部手指都可能受到影响。在皮肤疾病如天疱疮、扁平苔藓、大疱性表皮松解症中可能会遇到无痕;它也可以被视为某些综合征的组成部分,如指甲-髌骨综合征和库克综合征。我们介绍一对姐妹夫妇,他们所有的指甲和脚趾甲都缺失,没有任何额外的身体迹象。在这两种情况下,在10号染色体长臂的外周染色体分析中也遇到了一个脆弱的染色体位点。
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Isolated congenital anonychia cases with coincident chromosomal fragility

Isolated anonychia without any associated phenotypical disturbances is one of the rarest anomalies of congenital nail disorders. Some or all fingers of the hands or feet could be affected. Anonychia can be encountered in dermatologic disorders like pemphigus, lichen planus, epidermolysis bullosa; it can also be seen as a component of some syndromes like Nail-Patella and Cooks syndromes. We present a sister couple in whom all fingernails and toenails were lacking without any additional physical sign. A fragile chromosomal site was also encountered in peripheral chromosome analysis in the long arm of the chromosome 10 in both of the cases.

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