Genetic analysis of a patient with premature ovarian failure and a 45,XX,-13/46,XX,r(13)(p13q34)/46,XX,r(13;13) karyotype.
10.3760/cma.j.issn.1003-9406.2018.06.023
- Author:
Ting YIN
1
;
Anshun ZHENG
;
Juan TAN
;
Rong ZHANG
;
Ying GU
;
Leilei WANG
Author Information
1. Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222000, China. wangleileiok@qq.com.
- Publication Type:Case Reports
- MeSH:
Adult;
Chromosome Aberrations;
Female;
Humans;
Karyotype;
Karyotyping;
Phenotype;
Primary Ovarian Insufficiency;
genetics
- From:
Chinese Journal of Medical Genetics
2018;35(6):872-874
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic features of an adult female with premature ovarian failure (POF) and mosaic ring chromosome 13.
METHODS:The patient was subjected to G-banding karyotyping and chromosomal microarray analysis (CMA).
RESULTS:The patient was diagnosed as POF and had a karyotype of 46,XX,r(13)(p13q34)[86]/45,XX,-13[9]/46,XX,r(13;13)[5]. CMA analysis has failed to detect any deletion in the long arm of chromosome 13. Literature review suggested that the ring chromosome 13 may have clinical symptoms similar to those of sex chromosome abnormalities.
CONCLUSION:A case of mosaic ring chromosome 13 and POF has been reported. Mosaic ring chromosome 13 may lead to symptoms of POF similar to sex chromosomal abnormalities.
