Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2022-08-15 DOI:10.1186/s13039-022-00614-0

Ying Zhang, Juan Chen, Zonghui Feng, Wencheng Li

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Abstract

Background: Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected. Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs and UBCA identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm.

Case presentation: A 25-year-old, gravida 1, para 0, woman underwent amniocentesis at 18 weeks of gestation because the noninvasive prenatal testing (NIPT) results revealed a 6.8 Mb duplication from 2q11.1 to 2q11.2. Chromosomal microarray analysis (CMA) was performed on uncultured amniocytes. GTG-banding karyotype analysis on cultured amniocytes was performed.

Results: Chromosomal GTG-banding of the cultured amniocytes revealed a karyotype of 46,XX. CMA detected a 6.8-Mb chromosomal duplication in the region of 2q11.1q11.2 (arr[GRCh37] 2q11.1q11.2(95,327,873_102,088,148)x3).

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

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一个中国家庭遗传性不平衡染色体异常的产前诊断和遗传咨询。

背景:不平衡染色体异常(UBCA)是大基因组区域的增益或损失，但患者没有或只有轻微的临床影响。拷贝数变异(CNVs)是正常和致病性基因组变异的重要来源。在产前病例中发现的CNVs和UBCA需要仔细考虑和正确解释，如果它们是无害的或有害的变异。病例介绍:一名25岁，妊娠1期，第0段的女性在妊娠18周进行羊膜穿刺术，因为无创产前检查(NIPT)结果显示从2q11.1到2q11.2有6.8 Mb的重复。对未培养羊膜细胞进行染色体微阵列分析(CMA)。对培养的羊膜细胞进行gtg带核型分析。结果:培养的羊膜细胞染色体gtg带型显示核型为46,xx。CMA在2q11.1q11.2(arr[GRCh37] 2q11.1q11.2(95,327,873_102,088,148)x3)区域检测到6.8 mb染色体重复。结论:常规细胞遗传学方法难以检测到染色体微缺失和微重复，结合产前超声、核型分析、NIPT、CMA和遗传咨询有助于产前诊断UBCA和染色体微缺失/微重复。

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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.