Article
Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.
Human reproduction (Oxford, England) - 1 Feb 2006
Fimiani Giorgia, Laperuta Carmela, Falco Geppino, Ventruto Valerio, D'Urso Michele, Ursini Matilde Valeria, Miano Maria Giuseppina
Abstract excerpt
BACKGROUND: Deletions of Xq chromosome are reported for a number of familial conditions exhibiting premature ovarian failure (POF) and early menopause (EM). METHODS AND RESULTS: We describe the inheritance of an interstitial deletion of the long arm of the X chromosome associated with either POF or EM in the same family. Cytogenetic studies and heterozygosity mapping by quantitative fluorescent PCR revealed a...
Topics
- Adult
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, X
- Female
- Genetic Carrier Screening
- Genotype
- Humans
- Karyotyping
- Menopause, Premature
- Microsatellite Repeats
- Pedigree
- Polymerase Chain Reaction