Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and congenital heart defect (particularly supravalvular aortic stenosis), associated at times with infantile hypercalcemia. Molecular genetic studies have indicated that hemizygosity at the ela
Molecular cytogenetic characteristics of Down syndrome newborns
β Scribed by Aliza Amiel; Galit Goldzak; Elena Gaber; Moshe D. Fejgin
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 340 KB
- Volume
- 51
- Category
- Article
- ISSN
- 1435-232X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract SΓ©zary syndrome (SS) is a rare form of erythrodermic cutaneous Tβcell lymphoma with hematological involvement and a poor prognosis. At present little is known about the molecular pathogenesis of this malignancy. To address this issue, we analyzed 28 SS cases through the use of molecular
Six patients, including two sibs, with Angelman syndrome (AS; three females and three males, aged 11 to 18 years) were studied cytogenetically. Molecular analysis was also performed. Using high-resolution banding technique, we detected a microdeletion in the proximal region of chromosome 15q in four