𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy

✍ Scribed by Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni

Book ID
110027248
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
169 KB
Volume
16
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Mosaicism for full mutation and normal-s
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: A new case
✍ Orrico, Alfredo; Galli, Lucia; Dotti, Maria Teresa; Plewnia, Katrin; Censini, St πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 2 views

The main mutation in fragile X patients is the expansion of the CGG repeat in the first exon of the FMR1 gene, associated with hypermethylation of the proximal CpG island. An increasing number of atypical cases have been reported showing the coexistence of full mutation and premutated or normalsized

Distribution of (CGG)n and FMR-1 associa
Distribution of (CGG)n and FMR-1 associated microsatellite alleles in a normal Chilean population
✍ Jara, Lilian; Aspillaga, Manuel; AvendaοΏ½o, Isabel; Obreque, Victor; Blanco, Rafa πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 39 KB πŸ‘ 2 views

We report on the allele distribution in a normal Chilean population at 2 microsatellite loci neighbouring the FRAXA locus and at the CGG repeat in the 5 end of the FMR-1 gene, which causes the fragile X syndrome. The most common CGG repeat allele was 30 (41.7%), with 29 being second most common (30.