Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2022-07-04 DOI:10.1186/s13039-022-00605-1

Wenjuan Tang, Guowei Chen, Jingshu Xia, Ying Zhang

引用次数: 0

Abstract

Background: Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism, schizophrenia and congenital heart defects. The literature on this microdeletion is extensive and confusing, which is a challenge for genetic counselling.

Case presentation: We have performed prenatal diagnosis and genetic counseling of a paternally inherited 15q11.2 microdeletion. In this family, father with normal phenotype and fetus with abnormal phenotype have the same microdeletion.

Conclusion: Chromosomal microdeletions and microduplications are difficult to detect by conventional cytogenetics, combination of prenatal ultrasound, karyotype analysis, CMA and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.

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一个中国家庭中父系遗传的 15q11.2 染色体微缺失的产前诊断和遗传咨询。

背景：15 号染色体长臂的近端区域富含重复子，这些重复子定义了 15q 重排的五个断点（BP）。15q11.2 微缺失曾与发育迟缓、智力低下、癫痫、自闭症、精神分裂症和先天性心脏缺陷有关。有关这种微缺失的文献资料繁多且混乱，这对遗传咨询来说是一个挑战：我们对一个父系遗传的 15q11.2 微缺失病例进行了产前诊断和遗传咨询。在这个家庭中，表型正常的父亲和表型异常的胎儿具有相同的微缺失：结论：染色体微缺失和微重复很难通过常规细胞遗传学检测出来，结合产前超声、核型分析、CMA 和遗传咨询有助于染色体微缺失/微重复的产前诊断。

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

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.