A rare case of dicentric ring chromosome and derivative ring chromosome Chimera].

Utilize high-resolution chromosome analysis and microarray detection to determine the genetic etiology of infertility of a 32-year old female patient. The peripheral blood of the patient was cultured for high-resolution chromosome G and C banding karyotype analysis, and then 750K SNP-Array chip detection was performed. Karyotype analysis results showed that the patient's karyotype was 45,XX,-13 [7]/46,XX,r(13) (p13q34) [185]/46,XX,dic r(13;13)(p13q34;p13q34) [14]/ 47,XX,+der(13;13;13;13) (p13q34;p13q34;p13q34; p13q34), dic r(13;13) [1]/ 46,XX [3]. The microarray results showed that the patient had a 3.3 Mb deletion in the 13q34 segment of chromosome 13, which may be related to infertility. Infertility of the patient reported in this article may be related to the deletion of chromosome segment (13q34-qter).

Citation

Junzhen Zhu, Xiaoping Yu, Xiaofeng Qi, Qinying Cao, Wenshuang Zhu, Dan Yang, Haoyu Zhang, Zhanyun Song, Shibo Wang, Cuixia Wang. A rare case of dicentric ring chromosome and derivative ring chromosome Chimera]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022 May 10;39(5):534-536

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PMID: 35598273

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