新型 7q31.31q31.33 微重复的产前诊断结果良好。

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2022-03-26 DOI:10.1186/s13039-022-00589-y

Huili Luo, Linlin Liu, Yuexiang Feng

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引用次数: 0

摘要

背景：拷贝数变异（CNV拷贝数变异（CNV）是正常基因组变异和致病基因组变异的重要来源。特别是在产前病例中发现的 CNVs，需要仔细考虑并正确解释它们是无害的还是有害的变异：在此，我们报告了一个位于 7q31.3 的 7.6 Mb 的父方遗传性重复，令人惊讶的是，结果良好。对来自未培养羊膜细胞的 DNA 进行 GTG 带状染色和 CMA 染色，结果显示其核型为：46,XX.arr[G]：46,XX.arr[GRCh37] 7q31.31q31.33(118,601,001_126,177,044) ×3。超声波检查显示胎儿没有畸形或宫内生长受限，父亲的临床表现也正常：结论：产前检测到一名女性胎儿的 7q31.31 到 7q31.33 之间有一个 7.6 Mb 的重复，结果发现这是一个尚未报道的非平衡染色体异常。这再次说明，在对染色体畸变的意义得出可靠结论之前，亲本检测和GTG-banding是产前病例必须进行的额外检测。

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Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome.

Background: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Especially CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm.

Case presentation: Herein, we reported a paternally inherited duplication of 7.6 Mb in 7q31.3 with, surprisingly, a favorable outcome. GTG-banding and CMA on the DNA derived from uncultured amniocytes revealed a karyotype: 46,XX.arr[GRCh37] 7q31.31q31.33(118,601,001_126,177,044) × 3. Ultrasound examination showed no dysmorphisms or intrauterine growth restriction in the fetus and the father was clinically normal as well.

Conclusion: Prenatal detection of a 7.6 Mb in 7q31.31 to 7q31.33 duplication in a female fetus turned out to be a yet unreported unbalanced chromosome abnormality. This is another example that parental testing and GTG-banding are necessary additional tests to be done in prenatal cases, before a reliable conclusion on the meaning of an aberration can be drawn.

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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.