Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
Open Access
- 1 February 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (2) , 97-100
- https://doi.org/10.1136/jmg.30.2.97
Abstract
Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.Keywords
This publication has 28 references indexed in Scilit:
- Fragile X mental retardation and the iduronate sulphatase locus: Testing laird's model of Fra(X) inheritanceAmerican Journal of Medical Genetics, 1992
- Two families with Xq27.3 fragility, no detectable insert in the FMR‐1 gene, mild mental impairment, and absence of the Martin‐Bell phenotypeAmerican Journal of Medical Genetics, 1992
- Molecular studies of the fragile X syndromeAmerican Journal of Medical Genetics, 1992
- Fragile site Xq27.3 in a family without mental retardationClinical Genetics, 1992
- Association of the Robin sequence with the fragile X syndromeAmerican Journal of Medical Genetics, 1991
- Absence of expression of the FMR-1 gene in fragile X syndromeCell, 1991
- Localisation of the MRX3 gene for non-specific X linked mental retardation.Journal of Medical Genetics, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991
- A New DNA Marker Tightly Linked to the Fragile X Locus ( FRAXA )Science, 1989
- Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal maleNature, 1983