Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2022-11-03 DOI:10.1186/s13039-022-00626-w

Yaqing Zhou, Mingxi Zhang, Yanmin Zhu, Qi Zhao

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Abstract

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

Case presentation: A 28-year-old, gravida 1, para 0, woman underwent amniocentesis at 17 weeks of gestation because the noninvasive prenatal testing (NIPT) results revealed a 9.8 Mb deletion from Xq24 to Xq25. GTG-banding karyotype analysis was performed on cultured amniocytes. Chromosomal microarray analysis (CMA) on uncultured amniocytes was performed.

Results: Chromosomal GTG-banding of the cultured amniocytes revealed a karyotype of 46,XX. CMA detected a 9.5-Mb chromosomal deletion in the region of Xq24q25 (arr[GRCh37] Xq24q25(118,975,436_128,444,692) × 1).

Conclusion: The present report highlights that an integration of prenatal ultrasound, NIPT, karyotype analysis, CMA and genetic counseling is helpful for the prenatal diagnosis of chromosomal deletions/duplications.

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与正常表型相关的遗传性 Xq24q25 缺失的产前诊断和遗传咨询。

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。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变异还是有害的变异：一名 28 岁、孕酮 1、宫旁 0 的女性在妊娠 17 周时接受了羊膜腔穿刺术，原因是无创产前检测（NIPT）结果显示 Xq24 至 Xq25 之间存在 9.8 Mb 的缺失。对培养的羊膜细胞进行了 GTG 带核型分析。对未培养的羊膜细胞进行了染色体微阵列分析（CMA）：结果：对培养的羊膜细胞进行染色体 GTG 带分析，发现其核型为 46,XX。CMA检测到Xq24q25区域有9.5Mb的染色体缺失（arr[GRCh37] Xq24q25(118,975,436_128,444,692) ×1）：本报告强调，产前超声、NIPT、核型分析、CMA 和遗传咨询的整合有助于染色体缺失/重复的产前诊断。

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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.