一例罕见的 7 号染色体单亲同源异位症，但无表型异常。

IF 1.2 4区医学 Q3 OBSTETRICS & GYNECOLOGY

Ginekologia polska Pub Date : 2023-01-01 Epub Date: 2023-03-02 DOI:10.5603/GP.a2022.0045

Xiaoli Zeng, Fang Liu, Yunfan Xu, Fangfang Liu

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引用次数: 0

摘要

单亲裂殖（UPD）是一种众所周知的表观基因组异常，一对同源染色体的两个拷贝（或部分拷贝）遗传自同一父母[1]。与染色体数目或结构畸变不同，UPD 对染色体数目或结构没有影响，因此不会被细胞遗传学检测到 [1，2]。然而，UPD 可通过微卫星分析或基于 SNP 的染色体微阵列分析（CMA）方法进行检测。UPD可能会通过破坏基因组印记基因的正常等位基因表达、常染色体隐性性状的同源性或镶嵌式非整倍体而导致人类疾病[2]。在这里，我们展示了首例表型正常的 7 号染色体亲代 UPD 病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies.

Uniparental disomy (UPD) is a well-known epigenomic anomaly with both copies of a homologous pair of chromosomes (or part thereof) inherited from the same parent. Unlike numerical or structural chromosomal aberrations, UPD has no effects on chromosome number or structure, thereby escaping cytogenetic detection. However, UPD detection could be performed by the microsatellite analysis or SNP-based chromosomal microarray analysis (CMA) method. UPD may cause diseases in humans by disrupting normal allelic expression of genes undergoing genomic imprinting, homozygosity in case of autosomal recessive traits, or mosaic aneuploidy. Here we present the first case of parental UPD for chromosome 7 with a normal phenotype.

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来源期刊

Ginekologia polska OBSTETRICS & GYNECOLOGY-

CiteScore

2.00

自引率

15.40%

发文量

317

审稿时长

4-8 weeks

期刊介绍： Ginekologia Polska’ is a monthly medical journal published in Polish and English language. ‘Ginekologia Polska’ will accept submissions relating to any aspect of gynaecology, obstetrics and areas directly related. ‘Ginekologia Polska’ publishes original contributions, comparative works, case studies, letters to the editor and many other categories of articles.