Genetic diagnosis and prenatal diagnosis of Angelman syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 511-513, 2009.
Article
in Chinese
| WPRIM
| ID: wpr-287387
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).</p><p><b>METHODS</b>High-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.</p><p><b>RESULTS</b>Two AS patients and 1 normal fetus in the family were successfully detected by FISH.</p><p><b>CONCLUSION</b>Our result demonstrated that patient with type I AS could be detected by combining the techniques of high-resolution G-banding and FISH with clinical observation, which would offer accurate genetic counseling information to the geneticists and provide the prenatal diagnosis for the AS family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 15
/
In Situ Hybridization, Fluorescence
/
Angelman Syndrome
/
Diagnosis
/
Genetics
/
Karyotyping
Type of study:
Diagnostic study
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article
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