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首页> 外文期刊>American journal of medical genetics, Part A >Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome
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Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome

机译：患有Angelman综合征的同卵双生母亲的缺失体15q11.2-q13的体细胞和种系镶嵌

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摘要

Angelman syndrome (AS, OMIM105830) is a neurogenetic disorder caused by different genetic mechanisms. Determining the genetic mechanism is essential to establish the recurrence risk and the accuracy of genetic/reproductive counseling. The majority of AS patients present with a deletion of the 15q11.2-q13 region on the maternally derived chromosome. The other genetic mechanisms are: paternal disomy of chromosome 15, imprinting center defects, and mutations in the ubiquitin-protein ligase E3A gene (UBE3A). Different recurrence risks are associated with each specific genetic mechanism involved. We report on the study of dizygotic twins with classic phenotypic AS due to deletion of the same maternally derived chromosome 15. The mother presented with hypopigmented macular lesions on the inner side of both arms. Fibroblast culture studies of the maternal hypopigmented skin areas from both arms showed mosaicism for a normal cell line and for a second cell line with a 15q11.2-q13 deletion. This family represents the first demonstrated case of maternal somatic and germ line mosaicism for 15q11.2-q13 deletion as the cause of AS.
机译：Angelman综合征（AS，OMIM105830）是由不同遗传机制引起的神经遗传性疾病。确定遗传机制对于确定复发风险和遗传/生殖咨询的准确性至关重要。大多数AS患者表现出母源染色体上15q11.2-q13区的缺失。其他遗传机制是：15号染色体的父系二体化，印迹中心缺陷，以及泛素蛋白连接酶E3A基因（UBE3A）中的突变。不同的复发风险与所涉及的每个特定遗传机制相关。我们报道了由于同一个母体来源的15号染色体的缺失而导致的同卵双胞胎与经典表型AS的研究。母亲在两臂内侧呈现色素沉着的黄斑病变。两只手产妇色素沉着不足的皮肤区域的成纤维细胞培养研究表明，正常细胞系和缺失15q11.2-q13的第二细胞系的镶嵌性。该家族代表了首次证实的母体和种系镶嵌病因15q11.2-q13缺失而引起AS的案例。

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