完全性腺发育不全的女性中具有SRY重复的等心Y染色体。

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2025-09-30 DOI:10.1186/s13039-025-00728-1

Arash Salmaninejad, Zahra Yaghoubi, Tahereh Haghzad, Maryam Latifi, Reza Bayat, Somaye Esnaashari, Setila Dalili

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引用次数: 0

摘要

背景：性别分化和发育依赖于许多遗传和环境因素，任何这些因素的破坏都可能导致性别发育差异/障碍（dsd）。dsd是一组异质性罕见病，可分为三大类。完全性性腺发育不良是46，XY， DSD的一个亚群，表现为女性表型和青春期外生殖器，以原发性闭经为特征。病例介绍：在这里，我们报告了一名14岁的女性患者，其Y染色体结构重排包括SRY基因重复。这些染色体通过核型、Oligo-array比较基因组杂交（CGH）、中期荧光原位杂交（FISH）和外显子组测序（ES）进行了鉴定。讨论了这些重排发生的机制。结论：该先证者的46，X, idic(Y)(p11.32→q11.22:: q11.22→p11.32)]导致大量拷贝数变化，其中Yp11.32q11.223区域增加24.5 Mb, Yq11.223q11.23区域减少33 Mb。

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Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis.

Background: Sexual differentiation and development rely upon many genetic and environmental factors and any disruption of these can lead to Differences/Disorders of Sex Development (DSDs). DSDs are a diverse group of heterogeneous rare diseases that can be categorized into three main groups. 46,XY, complete gonadal dysgenesis is a subgroup of 46,XY, DSD that appears as female phenotype and external genitalia characterized by primary amenorrhea at adolescent.

Case presentation: Here, we present a 14-year-old female patient with structural rearrangements of the Y chromosome including SRY gene duplication. These chromosomes were characterized by karyotyping, Oligo-array comparative genomic hybridization (CGH), metaphase fluorescence in situ hybridization (FISH), and exome sequencing (ES). The mechanism(s) by which these rearrangements could have occurred is discussed.

Conclusions: 46,X, idic(Y)(p11.32→q11.22:: q11.22→p11.32)] in this proband led to a large copy-number change including 24.5 Mb gain on the Yp11.32q11.223 region and a 33 Mb loss on the Yq11.223q11.23 region.

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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.