Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-09-18 DOI:10.1159/000531769

Yong Wu, Chuanning Liao, Yamei Xie, Lingxi Wang

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引用次数: 0

Abstract

Introduction: Chromosomal aberrations due to complex chromosomal rearrangements (CCRs) can cause abnormal phenotypes if accompanied by microdeletions or microduplications near the breakpoint, or gene breaks. Case Presentation: We report a prenatal diagnostic case of 2q14.3-q22.1 deletion with ultrasound suggestive of absent nasal bone accompanied by CCRs involving 6 chromosomes. Cytogenetic analysis revealed a karyotype of 46,XY,der(1)t(1;2)(p13.3;p11.2),der(2)t(1;2)inv(2)(q12q14.2)del(2)(q14.3q22.1),t(12;16)(q21.2;q12.1),t(13;21)(q32;q22.1). Chromosomal microarray analysis identified a 14.90 Mb deletion on 2q14.3q22.1. The copy number variant was de novo, as determined by karyotype analysis of the parents’ peripheral blood G-banding. Conclusion: The region contains haploinsufficient genes that can cause different phenotypes, mainly associated with neurodevelopmental and autism spectrum disorders. However, the genotype-phenotype correlation is limited in prenatal evaluation. Therefore, the combined use of multiple diagnostic techniques has an important role in the assessment of CCRs and genetic counseling.

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新生儿2q14.3-q22.1缺失伴复杂染色体重排的产前诊断

& lt; b> & lt; i>简介:& lt; / i> & lt; / b>由于复杂染色体重排(ccr)引起的染色体畸变，如果在断点附近伴有微缺失或微重复，或基因断裂，可能导致异常表型。& lt; b> & lt; i>案例表示:& lt; / i> & lt; / b>我们报告了一例2q14.3-q22.1缺失的产前诊断病例，超声提示鼻骨缺失伴6条染色体的ccr。细胞遗传学分析显示核型为46,XY,der(1)t(1;2)(p13.3;p11.2)，der(2)t(1;2)inv(2)(q12q14.2)del(2)(q14.3q22.1)，t(12;16)(q21.2;q12.1)，t(13;21)(q32;q22.1)。染色体微阵列分析发现2q14.3q22.1缺失14.90 Mb。拷贝数变异是从头开始的，通过对父母外周血g带的核型分析确定。& lt; b> & lt; i>结论:& lt; / i> & lt; / b>该区域包含单倍不足基因，可导致不同的表型，主要与神经发育和自闭症谱系障碍有关。然而，基因型-表型相关性在产前评估中是有限的。因此，多种诊断技术的联合应用在ccr的评估和遗传咨询中具有重要的作用。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.