Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA
نویسندگان
چکیده
منابع مشابه
Fragile X Syndrome Full Mutation Females at Increased Risk for Mosaic Turner Syndrome: Fragile X Leads to Chromosome Loss
Fragile X Syndrome, the most common form of inherited mental retardation, is characterized by autistic behavior and mild to severe learning disabilities. The disease is caused by the expansion of a trinucleotide repeat located on the FMR1 (Fragile X Mental Retardation) gene located on the Xchromosome. Since the early 1990s, 348 prenatal female samples have been analyzed for Fragile X Syndrome a...
متن کاملFXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.
Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent car...
متن کاملPrenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus.
Fragile X syndrome, one of the most common human genetic diseases, is characterised by a unique genetic mechanism which involves dynamic mutation because of a heritable unstable DNA sequence and abnormal DNA methylation. Direct detection of the dynamic mutation and its methylation status at the DNA level would facilitate reliable tests for prenatal and postnatal diagnosis of the disease and for...
متن کاملPrenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fetus 19 CGG repeats allele derived from the maternal unstable allele which was inherited from his maternal grandmother. No size mosaicism was detect...
متن کاملTemporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls
Carriers of the fragile X premutation allele (fXPCs) have an expanded CGG trinucleotide repeat size within the FMR1 gene and are at increased risk of developing fragile x-associated tremor/ataxia syndrome (FXTAS). Previous research has shown that male fXPCs with FXTAS exhibit cognitive decline, predominantly in executive functions such as inhibitory control and working memory. Recent evidence s...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2009
ISSN: 1757-790X
DOI: 10.1136/bcr.06.2008.0139