Reduced ovarian complement, premature ovarian failure, and Down syndrome
✍ Scribed by Salamanca-G�mez, Fabio ;Buentello, Leonor ;Salamanca-Buentello, Fabio
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 35 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0148-7299
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A family is described in which six females in three generations experienced premature ovarian failure (POF). In three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, because her son had the fragile X syndrome. These findings provide further evi
## Abstract Fragile X syndrome (FRAXA) is the most common form of inherited mental retardation (MR). The mutational mechanism leading to the disease involves an expansion of a trinucleotide repeat located at the 5′ UTR region of the gene __FMR‐1__. Four types of alleles can be identified in the pop
## Abstract To determine the relationship between premature ovarian failure (POF) and skewed X‐chromosome inactivation (XCI), karyotype, and XCI status in 43 patients with POF (group I) and 43 age‐matched control women with regular menstrual cycles (group II) were evaluated. Evaluation of XCI statu
## Abstract Since only 20% of female fragile X premutation carriers develop premature ovarian failure (POF, i.e., amenorrhea before age of 40 years), and since X chromosome inactivation (XCI) determines the phenotypic severity of full mutation women, we reasoned that the development of POF in fragi