一例7q31.31q31.33新发微重复的产前诊断及良好预后

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

作者信息

Luo Huili, Liu Linlin, Feng Yuexiang

机构信息

Medical Laboratory Technology, Shiyan Maternal and Child Health Hospital, Shiyan, Hubei, People's Republic of China.

Hubei Provincial Center for Disease Control and Prevention, Institute of Health Inspection and Testing, Wuhan, Hubei, People's Republic of China.

出版信息

Mol Cytogenet. 2022 Mar 26;15(1):13. doi: 10.1186/s13039-022-00589-y.

DOI:10.1186/s13039-022-00589-y

PMID:35346310

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8962598/

Abstract

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.

摘要

背景

拷贝数变异（CNV）是正常和致病基因组变异的重要来源。尤其是产前病例中鉴定出的CNV，如果是无害或有害于正常情况的变异，则需要仔细考虑和正确解读。

病例报告

在此，我们报告了一例父系遗传的7q31.3区域7.6 Mb的重复，令人惊讶的是，结局良好。对未培养羊膜细胞的DNA进行GTG显带和染色体微阵列分析（CMA）显示核型为：46,XX。arr[GRCh37] 7q31.31q31.33(118,601,001_126,177,044)×3。超声检查显示胎儿无畸形或宫内生长受限，父亲临床检查也正常。