Martin-Bell fragile X syndrome
نویسندگان
چکیده
Fragile X syndrome (FXS) is one of the many disorders that are known and caused by some alteration or modification at genetic level, main characteristics this type also called Martin-Bell syndrome, intellectual disability, as well certain behaviors due to behavioral disorders, This changes in FMR1 gene, which very important because it responsible for producing FMRP protein, has function brain development, so when there kind change gene developing FXS person may have little no production protein.
منابع مشابه
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation.
A clinical and cytogenetic study has been made of subjects from families who have possible X linked mental retardation. The families were distinguished as those with a clinical diagnosis of Renpenning syndrome and those with other behavioural or physical abnormalities obviating such a diagnosis. All subjects with REnpenning syndrome carried a fragile Xq27-28 chromosome in more than 4% of their ...
متن کاملThe fragile X syndrome.
We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...
متن کاملFragile X syndrome
Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...
متن کاملFragile X Syndrome
groups with asthma. Thus the scientist must weigh the advantages of performing genetic studies in small, historically isolated populations with the potential disadvantage of being unable to eventually generalize the studies’ results. SEE ALSO Genetic Drift; Hardy-Weinberg Equilibrium; Inbreeding; Linkage and Recombination; Mapping; Population Bottleneck; Population Genetics; Tay-Sachs Disease.
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ژورنال
عنوان ژورنال: GSC Advanced Research and Reviews
سال: 2023
ISSN: ['2582-4597']
DOI: https://doi.org/10.30574/gscarr.2023.15.3.0213