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[Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case]
1Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China.
Objective:
To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient.
Methods:
Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation.
Results:
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.
Conclusion:
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.
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