Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2025-04-05 DOI:10.1186/s13039-025-00711-w

Fei Zhang, Gaoqi Liao, Xin Wen, Chengcheng Zhang

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引用次数: 0

Abstract

Background: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Microduplication of 15q21.3 is rare and is associated with an increased risk of developmental retardation, corpus callosum hypoplasia, microcephaly, cardiomyopathy, optic nerve hypoplasia and so on. Microduplication of 16p11.2 is associated with 16p11.2 microduplication syndrome (OMIM: 614671). The main clinical manifestations are low birth weight, microcephaly, mental retardation, language retardation, abnormal behavior, attention deficit, schizophrenia, affective disorder, loneliness spectrum disorder and so on. Individuals who carry these two microduplications are even more rare.

Materials and methods: In this research, a 32-year-old woman (gravida 1, para 0) underwent amniocentesis at 20 weeks' gestation because the results of ultrasound showed that one of the twins was smaller than the other.

Results: Copy number variation sequencing (CNV-seq) from this family revealed two types of microduplication (420 kb microduplication on chromosome 15q21.3 and 560 kb microduplication on chromosome 16p11.2) in both fetuses. Trio whole-exome sequencing (WES) showed that the two types of microduplication both originated from the father. After genetic counselling and being informed of the unfavourable prognosis, the parents decided to continue the pregnancy.

Conclusion: We provide a detailed description of the phenotype in a rare family with 15q21.3 and 16p11.2 microduplication. Combination of karyotype analysis, CNV-seq, WES, prenatal ultrasound and genetic counselling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.

Clinical trial number: Not applicable.

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一个罕见的 15q21.3 和 16p11.2 微重复家族的产前诊断和分子细胞遗传学分析。

背景：拷贝数变异（CNVs）是正常和致病性基因组变异的重要来源。15q21.3的微重复是罕见的，与发育迟缓、胼胝体发育不全、小头畸形、心肌病、视神经发育不全等风险增加有关。16p11.2的微重复与16p11.2微重复综合征相关（OMIM: 614671）。主要临床表现为低出生体重、小头畸形、智力发育迟缓、语言发育迟缓、行为异常、注意力缺陷、精神分裂症、情感障碍、孤独谱系障碍等。携带这两种微复制基因的个体更为罕见。材料和方法：在本研究中，一名32岁的女性（妊娠1期，第0段）在妊娠20周时进行了羊膜穿刺术，因为超声检查结果显示双胞胎中的一个比另一个小。结果：拷贝数变异测序（CNV-seq）结果显示，两个胎儿均存在两种类型的微重复（染色体15q21.3上420 kb的微重复和染色体16p11.2上560 kb的微重复）。三人全外显子组测序（WES）结果表明，这两种类型的微重复都起源于父亲。在遗传咨询和得知不良预后后，父母决定继续怀孕。结论：我们提供了一个具有15q21.3和16p11.2微重复的罕见家族的表型的详细描述。核型分析、CNV-seq、WES、产前超声和遗传咨询相结合有助于染色体微缺失/微重复的产前诊断。临床试验号：不适用。

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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.