Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with corpus callosum agenesis.

IF 1.2 4区 医学 Q3 OBSTETRICS & GYNECOLOGY
Ginekologia polska Pub Date : 2024-01-01 Epub Date: 2023-05-10 DOI:10.5603/GP.a2022.0121
Jiao Zheng, Tingting Song, Ying Xu, Jia Li, Pengfei Liu, Jiangfang Zhang, Hong Yang
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引用次数: 0

Abstract

Objectives: The corpus callosum is the main pathway that connects interhemispheric communication. Agenesis of corpus callosum (ACC) have not consistently detected replicate genetic risk factors, potentially due to Etiological heterogeneity of this trait. This study aimed to retrospectively analyze the molecular basis for the ACC and the potential genotyping-phenotyping association and provide the basis for genetic counselling.

Material and methods: Karyotyping and chromosomal microarray analysis were performed for copy number variants.

Results: Three cases had 1p36 deletions, two cases had 2q31.2 and 2p16.3 microdeletions, one case had microdeletion of Xq26.3q27.1, five cases involved derived chromosomes due to unbalanced translocations. These cases had variable deletions and duplications with partial overlapping. Phenotypically, besides agenesis of corpus callosum and other brain morphological abnormalities as well as heart abnormalities.

Conclusions: ACC may occur alone or be related to other abnormal clinical phenotypes, and its genetic mechanism is very complicated. These results revealed ACC is associated with a variety of chromosomal abnormalities. The findings of the present study expand the genotypes associated with ACC, and further delineation of the genotype-phenotype correlations for ACC. With current applications of chromosome microarray analysis, congenital submicroscopic copy-number variations in fetuses can be detected more effectively.

产前检测胼胝体发育不全胎儿的染色体异常和拷贝数变异。
目的:胼胝体是连接大脑半球间交流的主要通道。胼胝体发育不全(ACC)尚未持续检测到可复制的遗传风险因素,这可能是由于该特征的病因异质性。本研究旨在回顾性分析胼胝体发育不全的分子基础以及潜在的基因分型与表型关联,为遗传咨询提供依据:对拷贝数变异进行核型分析和染色体微阵列分析:结果:三个病例存在1p36缺失,两个病例存在2q31.2和2p16.3微缺失,一个病例存在Xq26.3q27.1微缺失,五个病例因不平衡易位而涉及衍生染色体。这些病例有不同的缺失和重复,部分重叠。从表型上看,除了胼胝体发育不全和其他脑形态异常以及心脏异常外:结论:ACC 可能单独发生,也可能与其他异常临床表型相关,其遗传机制非常复杂。这些结果显示,ACC 与多种染色体异常有关。本研究结果扩展了与 ACC 相关的基因型,并进一步明确了 ACC 基因型与表型的相关性。随着染色体微阵列分析技术的应用,可以更有效地检测胎儿先天性亚显微拷贝数变异。
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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来源期刊
Ginekologia polska
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.
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