A rare case of dicentric ring chromosome and derivative ring chromosome Chimera.
10.3760/cma.j.cn511374-20210119-00056
- Author:
Junzhen ZHU
1
;
Xiaoping YU
;
Xiaofeng QI
;
Qinying CAO
;
Wenshuang ZHU
;
Dan YANG
;
Haoyu ZHANG
;
Zhanyun SONG
;
Shibo WANG
;
Cuixia WANG
Author Information
1. Hebei Maternal Hospital, Shijiazhuang, Hebei 050000, China. 1326753406@qq.com.
- Publication Type:Journal Article
- MeSH:
Adult;
Chimera;
Chromosome Banding;
Chromosome Deletion;
Chromosome Disorders/genetics*;
Dacarbazine;
Female;
Humans;
Infertility/genetics*;
Ring Chromosomes
- From:
Chinese Journal of Medical Genetics
2022;39(5):534-536
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:Utilize high-resolution chromosome analysis and microarray detection to determine the genetic etiology of infertility of a 32-year old female patient.
METHODS: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.
RESULTS: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.
CONCLUSION:Infertility of the patient reported in this article may be related to the deletion of chromosome segment (13q34-qter).
