Fragile X analysis of 1112 prenatal samples from 1991 to 2010
Prenatal Diagnosis2011Vol. 31(10), pp. 925–931
Citations Over TimeTop 1% of 2011 papers
Sarah L. Nolin, Anne Glicksman, Xiaohua Ding, Nicole Ersalesi, W. Ted Brown, Stephanie L. Sherman, Carl Dobkin
Abstract
The maternal transmissions of alleles with 55 to 59 CGG repeats summarized here indicate that the risk for expansion to full mutation is substantially less than previous estimates for this size category. Most premutation alleles with no family history of fragile X exhibited less instability than those with a history of fragile X. Thus, lower risk estimates for full mutation expansion may be appropriate for women newly identified as premutation carriers through routine screening.
Related Papers
- → Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers(2001)455 cited
- → Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations(2011)91 cited
- → The role of fragile X mental retardation protein in major mental disorders(2010)79 cited
- → Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region(1994)57 cited
- → Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies(2003)6 cited