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AvtorGeršak, Ksenija
Franić, Damir
Veble, Alenka, 1958-
Zupanič-Pajnič, Irena
Teran, Nataša
Writzl, Karin
Naslov Premature ovarian failure with FMR1 premutation, X chromosome mosaicism and blood lymphocyte microchimerism / K. Gersak ... [et al.]
Vrsta/vsebinatype of material članek - sestavni del
Jezikangleški
Leto2011
Fizični opisstr. 289-293 : Ilustr.
OpombeAbstract
Bibliografija: str. 293
BSDOCID151793
Predmetne oznakeOvarian Failure, Premature - Genetics
X Chromosome
Mosaicism
In Situ Hybridization, Fluorescence
Microsatellite Repeats
Lymphocytes
Karyotyping
Fertilization In Vitro
Embryo Transfer
Oocyte Donation
Jajčnik, odpoved, prezgodnja
X kromosom
Mozaicizem
In situ hibridizacija fluorescenčna
Mikrosatelitne ponovitve
Limfociti
Zarodek, prenos
Oocit, dajalka
Kariotip, določanje
Oploditev in vitro
Doi/ISAN10.3109/13697137.2010.490604
PovzetekGenetic causes of premature ovarian failure (POF) comprise less than one-thirdof all cases, among them X chromosome abnormalities, mutations and polymorphisms in some genes. The frequency of X-chromosome mosaicism in womenwith sporadic POF has been found to range between 3 and 10%, whereas the prevalence of POF in carriers of the FMR1 premutation is estimated to range between 13 and 25%. We report two successful pregnancy outcomes after in vitrofertilization-embryo transfer with donated oocytes in a woman with severePOF of a complex genetic origin. Chromosome analysis, fluorescence in situ hybridization on cultured peripheral blood lymphocytes and buccal mucosalcells, and molecular genetic studies, using autosomal, Y-chromosomal polymorphic microsatellite or short tandem repeat markers and CGG repeats in the FMR1 gene, were performed. FMR1 premutation, sex chromosome mosaicism and blood lymphocyte microchimerism were found. Assisted reproduction techniques can be safely used in POF women after a thorough clinical evaluation and genetic counselling.
COBISS.SI-ID27118041
Glej publikacijo TI=Climacteric ISSN: 1369-7137.- Vol. 14, issue 2 (2011), str. 289-293

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