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一例新病例的产前诊断:涉及t(15;22)(p11.2;q11.2)的平衡非罗伯逊易位

Prenatal Diagnosis of a New Case: Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2).

作者信息

Ei Atli, H Gurkan, E Atli, H Tozkir, Gf Varol, C İnan

机构信息

Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Department of Gynecology and Obstetrics, Faculty of Medicine, Trakya University, Edirne, Turkey.

出版信息

Balkan J Med Genet. 2018 Dec 31;21(2):69-72. doi: 10.2478/bjmg-2018-0020. eCollection 2018 Dec.

Abstract

The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46,XY,t(15;22)(p11.2; q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.

摘要

与近端着丝粒染色体相关的平衡非罗伯逊易位(ROB)是一种不寻常的现象。我们报告了一例罕见的涉及15号和22号染色体的非ROB病例,其细胞遗传学和分子细胞遗传学结果为46,XY,t(15;22)(p11.2;q11.2)。据我们所知,t(15;22)是该断点的首次报道,并非常见的非ROB。来自两种不同初始培养物的绒毛膜绒毛细胞的核型为46,XY,t(15;22)(p11.2; q11.2)。这与近端着丝粒染色体常见的非ROB不同。已进行比较基因组杂交以确定染色体来源。与近端着丝粒染色体相关的非罗伯逊易位是一个不寻常的事件,仅有少数病例报道。在本研究中,我们观察到15号和22号近端着丝粒染色体作为一种罕见的平衡非ROB,其中15号染色体的随体易位到22号染色体,22号染色体的一部分易位到15号染色体。据我们所知,我们的患者是文献中报道的首例在产前和产后阶段发生这种易位的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77dc/6454237/0c25ddd7fd7b/bjmg-21-069-g001.jpg

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