ผู้วิจัย/Authors: Noppawan Sriwongpanich
ชื่อเรื่อง/Title: Williams syndrome; A case report
แหล่งที่มา/Source: Journal of Mental Health of Thailand, Vol. 9, No 2, May 2001, Page 92.
รายละเอียด / Details:
A report of one patient with Williams syndrome in Rajanukul hospital a five-year-old Thai boy presented with delayed development.His facial characteristics are epicanthal folds periorbital fullness full mounth thick lips and upturned nose. He was severe mental retardation. Physical examination revealed no cardiovascular abnormality. The blood test by FISH technique was done and found deletion at elastin gene 7q11.23 region.
Keywords: Williams syndrome, elastin gene, supravalvular aortic stenosis, fluorescent in situ hybridization FISH, deletion
Address: Department of Mental Health Ministry of Public Health
Country of publication: Thailand.
Category: Abstract Journal.