Analysis of genetic etiology of a female with 47,XXY syndrome.
- VernacularTitle:一例罕见的47,XXY综合征女性的遗传学病因分析
- Author:
Hongying LI
1
,
2
;
Kaihui ZHANG
;
Min GAO
;
Haiyan ZHANG
;
Ying WANG
;
Yufeng ZHANG
;
Yi LIU
;
Zhongtao GAI
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Chromosome Banding; Chromosomes, Human, Y; genetics; Female; Genes, sry; genetics; Humans; Intellectual Disability; genetics; Karyotype; Karyotyping; Klinefelter Syndrome; genetics; Male; Polymerase Chain Reaction; Review Literature as Topic; Sequence Analysis, DNA; methods; Sequence Deletion; Sequence Homology, Nucleic Acid
- From: Chinese Journal of Medical Genetics 2017;34(1):102-105
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic cause of a female case with intellectual development disorder.
METHODSG banding karyotyping was performed for the patient. Following DNA extraction, the coding sequence of SRY gene was amplified with PCR and subjected to Sanger sequencing. qPCR was used to detect the copy numbers of the SRY gene.
RESULTSThe karyotype of the patient was 47,XXY. PCR and qPCR analyses of the SRY gene showed a large deletion with null copy number.
CONCLUSIONThe female phenotype of the patient is probably due to deletion of the SRY gene on the Y chromosome. This is the first report of 47,XXY female case with deletion of the SRY gene in China.
