ArticleHuman genetics1994
Apparent regression of the CGG repeat in FMR1 to an allele of normal size.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.Journal of genetic counseling · 2014Article
- The FMR1 gene, infertility, and reproductive decision-making: a review.Frontiers in genetics · 2014Review
- Emotional reaction to fragile X premutation carrier tests among infertile women.Journal of genetic counseling · 2008Article
- Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.American journal of human genetics · 2003Article
- Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2000Article
- The fragile X syndrome.Journal of medical genetics · 1998Review
- Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.Journal of medical genetics · 1997Article
- Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.American journal of human genetics · 1997Article
- Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.American journal of human genetics · 1996Article
- Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.Human genetics · 1996Article
- Mechanisms of DNA expansion.Chromosoma · 1995Review
- FMR1 triplet arrays: paying the price for perfection.Journal of medical genetics · 1995Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. Although regression of a CGG repeat in the premutation range is not uncommon, regression from a full premutation (> 200 repeats) or premutation range (50-200 repeats) to a repeat of normal size (< 50 repeats) has not yet been documented. We present here a family in which the number of repeats apparently regressed from approximately 110 in the mother to 44 in her daughter. Although the CGG repeat of the daughter is in the normal range, she is a carrier of the fragile X mutation based upon the segregation pattern of Xq27 markers flanking FMR1. It is unclear, however, whether this allele of 44 repeats will be stably transmitted, as the daughter has as yet no progeny. Nevertheless, the size range between normal alleles and premutation alleles overlap, a factor that complicates genetic counseling.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.