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Title

WILLIAMS SYNDROME

Pages

 Start Page 3 | End Page 3

Abstract

 Case Presentation: Proband is a 4-year old girl from Marand city who was referred to our genetic center due to mental retardation, and developmental delay. She was the first only child of consanguinous parents (3rd familial marriage relationship). Her karyotype was normal. He had mental retardation, growth developmental delay, prominent lips with open mouth, normal calcium of serum, echo finding (pulmonary stenosis, ASD), blond and curly hair, blue eyes, periorbital fullness of subcutaneous tissues.According to clinical findings and normal karyotype, WILLIAMS SYNDROME was considered. FISH study was done by professor Karyminajad, and WILLIAMS SYNDROME diagnosis was confirmed.Conclusion: Although most individuals with this disorder represent sporadic cases, parent to child transmission has been documented. Studies using Fluorescent In Situ Hybridization indicate that both inherited and sporadic cases of WILLIAMS SYNDROME are caused by a deletion at 7q11.23, a region that includes approximately 17 genes.Homozygosity for the elastin gene is responsible for supravalvular aortic stenosis as well as other vascular stenosis and LIM-KINASE 1 Homozygosity is a contributing factor to impaired visuospatial construction cognition in this disorder. GENETIC COUNSELING and prenatal diagnisis (C.V.S or Amniocentesis) advise for Future pregnancies.

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