Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 505-507, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247647
ABSTRACT
<p><b>OBJECTIVE</b>To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient.</p><p><b>METHODS</b>Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation.</p><p><b>RESULTS</b>The karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her parents.</p><p><b>CONCLUSION</b>The mental retardation and special facies of the girl were probably due to the 7q11.23 microdeletion. SNP-array has an important value for the diagnosis of mental retardation.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human, Pair 7
/
Chromosome Deletion
/
Williams Syndrome
/
Oligonucleotide Array Sequence Analysis
/
Polymorphism, Single Nucleotide
/
Genetics
Type of study:
Diagnostic study
Limits:
Child
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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