Two cases of rare diseases with abnormalities of X chromosome.
10.3760/cma.j.issn.1003-9406.2019.02.014
- Author:
Qinghua WU
1
;
Xiyang MA
;
Xiangdong KONG
;
Huirong SHI
;
Zhengguang CHEN
;
Zhihui JIAO
;
Lina LIU
;
Miao JIANG
Author Information
1. Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. qh_wu77@163.com.
- Publication Type:Case Reports
- MeSH:
Chromosomes, Human, X;
Humans;
Infant;
Karyotyping;
Male;
Muscular Dystrophy, Duchenne;
genetics;
Rare Diseases;
Turner Syndrome;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(2):151-153
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.
METHODS:Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a-2-month-old male infant with short penis.
RESULTS:The girl, who featured short stature and cubitus valgus, was diagnosed as Turner syndrome with a karyotype of 46,X,i(Xq). The male infant was detected with a karyotype of 45,X, with presence of SRY gene but absence of AZF gene.
CONCLUSION:Both cases may be associated with abnormalities of X chromosome. Genetic testing can facilitate early diagnosis and clinical intervention for such patients.
