Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 495-497, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-771981
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 7
/
Genetic Testing
/
Chromosome Banding
/
Williams Syndrome
/
Diagnosis
/
Karyotyping
Type of study:
Diagnostic study
Limits:
Child
/
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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