具有新着丝粒的反向重复13q标记染色体的产前鉴定。

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2023-11-30 DOI:10.1186/s13039-023-00666-w

Liselot van der Laan, Daniel R Hoekman, Esther J Wortelboer, Marcel M A M Mannens, Angelique J A Kooper

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引用次数: 0

摘要

在这个病例报告中，我们描述了一个罕见的产前发现一个小的标记染色体。该标记染色体对应于13q区域13q31. 11 q34(或13q31.1→qter)与新中心粒的反向重复，在对患有多种先天性异常的胎儿的绒毛膜绒毛样本进行遗传分析时，通过无创产前检查发现正常的产前筛查结果。

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Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere.

In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.

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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.