Williams syndrome (WS) is a unique type of microdeletion syndromes thatcauses a wide spectrum of multisystemic clinical manifestations. Its incidence is somewhere between 1 in 7500-20000 livebirths. It results from a deletion of 1.5-1.8 megabases (Mb) in chromosome 7q11.23 that can be detected by fluorescent in situ hybridization (FISH) technique which is the gold standard for its diagnosis. WS is characterized by dysmorphicfacies, cardiovascular disease, most commonly
supravalvular aortic stenosis (SVAS), intellectual disability, a characteristic cognitive profile, and idiopathic hypercalcemia. This study was aiming to evaluate the clinical, cardiac, and biochemical aspects in a cohort of children with WS in Egypt and confirm the microdeletion by FISH technique.
AIM OF THE WORK:
1- Clinical assessment of children suspected to have WS attending the genetics clinic at Smouha Hospital University, Faculty of medicine.
Establishing molecular diagnosis for confirmation of the suspected cases by FISH technique through detection of chromosome 7q11.23 microdeletion.