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Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [ 2 ]
Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. [1] Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. [2]
In humans, the researchers went on to note, WBSCR17 is at least partly responsible for a rare genetic disorder called Williams-Beuren syndrome. Williams-Beuren is characterized by elfin features, a shortened nose bridge, and "exceptional gregariousness"—its sufferers are often overly friendly and trusting of strangers.
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800-290-4726 more ways to reach us. Mail. ... Wendy Williams Says She Has ‘No Idea’ What the 7 Pills She Takes Daily in Treatment Facility Are For. Sean Neumann. January 16, 2025 at 1:38 PM ...
7q11.23 duplication syndrome (also called dup7 or 7dup or duplication of the Williams-Beuren syndrome critical region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.
None recalled his mentioning Williams syndrome and he did not continue research in the area. After the end of his fellowship, Williams worked as a consultant with Wood until September 1966. [ 1 ] He continued to be associated with the Mayo Clinic after he moved to the United Kingdom where he worked with the physiologist Andrew Huxley at ...