Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome.
10.3760/cma.j.issn.1003-9406.2019.05.020
- Author:
Na XI
1
;
Zhu ZHANG
2
;
Xueyan WANG
1
;
Lingling SUN
1
;
Xiao SONG
1
;
Shengmei LI
3
;
Shanling LIU
2
Author Information
1. Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan 610045, China.
2. Department of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children of the Ministry of Education, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, China. Email: sunny630@126.com.
3. Department of Family Planning, Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan 610045, China.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Banding;
Chromosomes, Human, Pair 7;
Female;
Genetic Testing;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis;
Williams Syndrome;
diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(5):495-497
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic diagnosis for a pregnant woman and her fetus.
METHODS:Chromosome G-banding and microarray analysis were used to analyze the woman featuring dysmorphism and recognition defect and her fetus featuring developmental retardation.
RESULTS:The karyotype of the woman was normal, but chromosome microarray analysis showed that she has carried a 1423 kb deletion at 7q11.23 region. Her fetus has carried a 1530 kb deletion at the same region. Both individuals were diagnosed as Williams-Beuren syndrome.
CONCLUSION:Familiarity with its clinical features and proper selection of genetic testing methods are crucial for the diagnosis of Williams-Beuren syndrome.
