Author/Editor		Geršak, K; Franič, D; Veble, A; Zupanič-Pajnič, I; Teran, N; Writzl, K
Title		Premature ovarian failure with FMR1 premutation, X chromosome mosaicism and blood lymphocyte microchimerism
Type		članek
Source		Climacteric Carnforth
Vol. and No.		Letnik 14, št. 2
Publication year		2011
Language		eng
Abstract		Genetic causes of premature ovarian failure (POF) comprise less than one-third of all cases, among them X chromosome abnormalities, mutations and polymorphisms in some genes. The frequency of X-chromosome mosaicism in women with 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 vitro fertilization-embryo transfer with donated oocytes in a woman with severe POF of a complex genetic origin. Chromosome analysis, fluorescence in situ hybridization on cultured peripheral blood lymphocytes and buccal mucosal cells, 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.
Descriptors		OVARIAN FAILURE, PREMATURE X CHROMOSOME MOSAICISM IN SITU HYBRIDIZATION, FLUORESCENCE MICROSATELLITE REPEATS LYMPHOCYTES KARYOTYPING FERTILIZATION IN VITRO EMBRYO TRANSFER OOCYTE DONATION