Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome in male.) Because both males (XY...
Abstract Background Fragile X is the most common cause of mental retardation after Down syndrome. It is the commonest inherited cause of mental retardation, and results from a dynamic mutation in a gene on the long arm of the X chromosome. Various strategies are used for prenatal screening. ...
fragile X syndromepremature ovarian failuremental retardationTo provide Canadian family physicians, genetic counsellors, medical geneticists, midwives, and obstetrician-gynaecologists with recommendations regarding screening for fragile X in the obstetrical and gynaecological population. Medline, the Cochrane ...
REVIEW A systematic review of population screening for fragile X syndrome Melissa K. Hill, PhD1,2, Alison D. Archibald, Grad Dip Genet Couns1,3, Jonathan Cohen, FRACGP4,5, and Sylvia A. Metcalfe, PhD1,3 Purpose: To conduct a systematic review of literature regarding pop- ulation-based ...
摘要: PubMed comprises more than 23 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.关键词:X chromosome fragile site baldy calf syndrome animal model ...
Fragile X syndrome. Tonotopic alterations in inhibitory input to the medial nucleus of the trapezoid body in a mouse model of Fragile X syndrome.Tonotopic alterations in inhibitory input to the medial nucleus of the trapezoid body in a mouse model of Fragile X syndrome.doi:10.1002/cne.24290...
The genetic distance between the coagulation factor IX gene and the locus for the fragile X syndrome: clinical implications. In 3 families with the fragile-X [fra(X)] syndrome, we have identified a minimum of 4 recombinations in 9 meioses between the syndrome locus and the coagul... C ...
Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies. Developmental Disabilities Research Reviews 2009;15:343-52.Lightbody, A., & Reiss, A. (2009). Gene, brain, and behavior relationships in fragile X syndrome: Evidence from neuroimaging studies. ...
Fragile X syndrome (FXS) is the most common single gene (FMR1) disorder affecting cognitive and behavioral function in humans. This syndrome is characterized by a cluster of abnormalities including lower IQ, attention deficits, impairments in adaptive behavior and increased incidence of autism. Here,...
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol. 2007; 6 :45–55.Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurology. 2007; 6 :...