Williams syndrome first described in 1961 is generally characterised by mental deficiency, gregarious personality, unusual “elfin” facies, supravalvular aortic stenosis and idiopathic, infantile hypercalcaemia. Patients with Williams syndrome show a hemizygous submicroscopic deletion of 7q11.23 detectable by jluorescent in-situ hybridisation (FISH). The deleted portion of the chromosome corresponds to the Elastin gene.
We report 3 girls with characteristics of Williams syndrome in whom the diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by FISH, These patients, aged 6, 7 and 10 years, showed the characteristic facies and gregarious personalities. Some developmental delay with mild mental deficiency and dysmorphic facies were prominent features in the initial presentation. Cardiac lesions found in these patients were small patent ductus arteriosus which closed, pulmonary valvular stenosis and mitral valve prolapse associated with mitral regurgitation respectively. Hypercalcaemia was not documented in these patients. Learning difficulty was a major issue and all patients required special schooling. Chromosome analyses done on peripheral blood were found to be normal in all patients. FISH using the Elastin Williams Syndrome Chromosome Region (WSCR) probes (Oncor@) showed the hemizygous deletion of 7q11.23. Diagnosis of Williams syndrome can now be confidently confirmed with the help of FISH.
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The author(s) declare there are no affiliations with or involvement in any organisation or entity with any financial interest in the subject matter or materials discussed in this manuscript.
