Article
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
American journal of human genetics - 1 Jul 1995
Lowery M C, Morris C A, Ewart A, Brothman L J, Zhu X L, Leonard C O, Carey J C, Keating M, Brothman A R
Abstract excerpt
Williams syndrome (WS) is generally characterized by mental deficiency, gregarious personality, dysmorphic facies, supravalvular aortic stenosis, and idiopathic infantile hypercalcemia. Patients with WS show allelic loss of elastin (ELN), exhibiting a submicroscopic deletion, at 7q11.23, detectable by FISH. Hemizygosity is likely the cause of vascular abnormalities in WS patients. A series of 235 patients was...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosomes, Human, Pair 7
- DNA Probes
- Elastin
- Face
- Female
- Gene Deletion
- Growth Disorders
- Heart Defects, Congenital
- Humans