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

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>