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2 Journal of Applied Genetics

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Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dup(15)

100%

Vulcani-Freitas T. M. , Gil-da-Silva-Lopes V. L. , Varella-Garcia M. , Maciel-Guerra A. T.

nr 1

89-91

We report on a phenotypically normal man with infertility, whose 47,XY,+mar karyotype was studied by spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) using a chromosome-15-specific probe (LSI SNRPN). By these techniques, the marker chromosome was identified as a small inv dup (15). Possible causes for male infertility in this case are discussed.

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

88%

Soardi F. C. , Coeli F. B. , Maciel-Guerra A. T. , Guerra-Junior G. , de_ M. M. P.

tom 51

nr 2

223-224

The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15?20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.