一名无精子症男性，其染色体核型为46, XX，der(15)t(Y; 15)(p11.3; p12)（一种新型染色体核型）。

An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12).

作者信息

Wu Jiebin, Hu Guanli, Zhai Jingfang, Han Conghui, Li Zhenbei

机构信息

Department of Prenatal Diagnosis Medical Center Xuzhou Central Hospital, Xuzhou Clinical Schools of Nanjing Medical University and Xuzhou Medical University Xuzhou Jiangsu China.

Department of Urology Xuzhou Central Hospital, Xuzhou Clinical Schools of Nanjing Medical University and Xuzhou Medical University Xuzhou Jiangsu China.

出版信息

Clin Case Rep. 2022 Jul 11;10(7):e5984. doi: 10.1002/ccr3.5984. eCollection 2022 Jul.

DOI:10.1002/ccr3.5984

PMID:35846903

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9272210/

Abstract

Male individuals with a 46, XX karyotype are commonly diagnosed with 46, XX male sex reversal syndrome, one of the rarest sex chromosomal anomalies. In this case, we report a rare XX male with Y-specific DNA sequences located near the end of chromosome 15 p-arm, which was verified by fluorescent in situ hybridization (FISH) as well as copy number variation sequencing (CNV-seq) based on the next- generation sequencing method (>100 Kb). To the best of our knowledge, there have been no reports of XX male with the Yp region transferred to the terminal of chromosome 15 short arm.

摘要

核型为46, XX的男性个体通常被诊断为46, XX男性性反转综合征，这是最罕见的性染色体异常之一。在本病例中，我们报告了一名罕见的XX男性，其Y特异性DNA序列位于15号染色体短臂末端附近，通过荧光原位杂交（FISH）以及基于下一代测序方法（>100 Kb）的拷贝数变异测序（CNV-seq）得以验证。据我们所知，尚无Yp区域转移至15号染色体短臂末端的XX男性的报道。