FMR1 repeat analysis in patients with ovarian dysfunction or failure
โ Scribed by Patsalis, Philippos C.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 10 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990402)83:4<329::aid-ajmg20>3.0.co;2-a
No coin nor oath required. For personal study only.
โฆ Synopsis
There is no significant difference in the normal and "gray zone" alleles of the FMR1 repeat in these patients compared with the normal population ( 2 โซืกโฌ 0.45, df โซืกโฌ 1, P > 0.1). Normal stability during transmission was found in all 25 available families.
๐ SIMILAR VOLUMES
## Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1. Very little information exists on the natural history and pathogenesis of PA in NF1. This report
The fragile sites FRAXA and FRAXE, located โผ600 kb apart on Xq27.3 and Xq28, respectively, are due to a CGG trinucleotide repeat expansion. Although the expansion mechanism for these and other trinucleotide repeat disorders remains unknown, the similarities between the FRAXA and FRAXE regions sugges
Ovarian failure can result from several different genetic mechanisms-X chromosomal abnormalities, autosomal recessive genes causing various types of XX gonadal dysgenesis, and autosomal dominant genes. The number and precise location of loci on the X are still under investigation, but it is clear th
With the rationale that a disease that presents with anticipation could be associated with expansion of trinucleotide repeats, we selected parent-offspring pairs of schizophrenia patients with earlier age at onset in the filial generation to measure the expansion of CAG repeats using the repeat expa