Fragile X syndrome, also known as Martin-Bell syndrome, is a genetic condition that affects a child's learning, behavior, appearance, and health. Symptoms can be mild or more severe, and boys often have a more serious form of the condition than girls. ...
The repeat is normally found in less than 50 copies in normal individuals but expands to hundreds of copies in in patients with fragile X syndrome. The expansion leads to the appearance of a rare folate-sensitive fragile site on metaphase chromosomes, a finding that first led to the ...
Compared to individuals diagnosed with manygeneticor chromosomal syndromes, affected fragile X males usually are often typical inphysical appearance. This helps to explain why they are frequently undiagnosed and why the syndrome was only recently recognized as a distinct entity. As adults, they usually...
Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. The number of CGG triplet repeats, also called the “size of the...
This indication of a decline in intellectual performance with age in the fra(X) syndrome was confirmed by a longitudinal individual follow-up of seven fra(X) boys in this age group. In contrast to intellectual performance, appearance of the attention deficit disorder (or hyperkinesis), with ...
The most common form of inherited mental retardation (MR) is Fragile X syndrome. The mutation of the gene completely turns off and does not produce the protein needed to make certain all other genes function properly. It is linked to other disorders. There are many characteristics connected to...
XY/XXY mosaicism and fragile X syndrome 来自 Semantic Scholar 喜欢 0 阅读量: 25 作者:JP Fryns,A Kleczkowska,E Kubień,P Petit,HVD Berghe 摘要: Clinical and cytogenetic data of a XY/XXY mosaic Klinefelter patient with fragile X are presented.关键词:...
easily broken, shattered, or damaged; delicate; brittle; frail: a fragile ceramic container; a very fragile alliance. vulnerably delicate, as in appearance: She has a fragile beauty. lacking in substance or force; flimsy: a fragile excuse. ...
Alagille syndrome (AGS), a multisystem developmental disorder, is characterized by intrahepatic cholestasis and abnormalities of heart, eye and vertebrae and a characteristic facial appearance. The AGS phenotype has been associated with mutations in the Jagged1 gene (JAGI) which encodes a ligand in ...
We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen ...