复发性妊娠丢失1例易位T(2;7)(p23;q35)。

IF 1.2 Q2 MEDICINE, GENERAL & INTERNAL
Abdulbaki Yildirim, Duygu Taskin, Rumeysa Atasay, Munis Dundar
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引用次数: 0

摘要

复发性妊娠丢失是由多种病因引起的现象。这些原因大多数是染色体异常。在本病例报告中,对向我科咨询复发性流产的家庭进行了细胞遗传学分析。女性核型正常(46,XX);然而,在男性中检测到t(2;7)(p23;q35)易位。互惠易位是一种常见的染色体异常,我们预计这种易位将成为复发性妊娠丢失的新原因。在分析中,检查了500个波段水平的制剂,并评估了至少20个中期区域。从细胞遗传学和FISH(荧光原位杂交)分析的结果,我们确定男性有t(2;7)(p23;q35)染色体异常。结合患者2p23区域的探针在7号染色体q端发出信号;然而,另外两条染色体(2号和7号)是正常的。在文献中没有关于复发性妊娠丢失投诉的报道。在这种情况下,将首次报道核型为46,XY, t(2;7)(p23;q35)的个体配子携带不平衡遗传物质形成的胚胎与生命不相容。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A New Case of Translocation T(2;7)(p23;q35) in Recurrent Pregnancy Loss.

Recurrent pregnancy loss is a phenomenon caused by many etiologies. The majority of these causes are chromosomal anomalies. In this case report, cytogenetic analysis was performed on the family who consulted our department with the complaint of recurrent pregnancy loss. A normal karyotype was found in the female (46, XX); however, t(2;7)(p23;q35) translocation was detected in the male. Reciprocal translocations are a common class of chromosomal abnormalities, and we anticipate this case of translocation will be a new cause for recurrent pregnancy loss. In the analysis, preparations at the level of 500 bands were examined, and at least 20 metaphase areas were evaluated. From the results of cytogenetic and FISH (fluorescence in situ hybridization) analysis, we determined the male had t(2;7)(p23;q35) chromosomal anomaly. The probe binding the patient's 2p23 region signaled at the q-terminal of chromosome 7; however, the other two chromosomes (2 and 7) were normal. There is no report of such a case in the literature for recurrent pregnancy loss complaints. With this case, it will be reported for the first time that an embryo formed with the gametes carrying unbalanced genetic material of an individual with the karyotype 46, XY, t(2;7)(p23;q35) is incompatible with life.

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来源期刊
Clinical Medicine & Research
Clinical Medicine & Research MEDICINE, GENERAL & INTERNAL-
CiteScore
1.80
自引率
7.10%
发文量
25
期刊介绍: Clinical Medicine & Research is a peer reviewed publication of original scientific medical research that is relevant to a broad audience of medical researchers and healthcare professionals. Articles are published quarterly in the following topics: -Medicine -Clinical Research -Evidence-based Medicine -Preventive Medicine -Translational Medicine -Rural Health -Case Reports -Epidemiology -Basic science -History of Medicine -The Art of Medicine -Non-Clinical Aspects of Medicine & Science
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