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Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dupp.89-91,fig.,ref.

100%

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

Journal of Applied Genetics

2006

tom 47

nr 1

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., Borchers C. F., Maciel-Guerra A. T., Guerra-Junior G., Palandi d. M. M.

Journal of Applied Genetics

2010

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 STY and no adrenal failure.

Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

88%

Alexandrino F., Oliveira C. A., Reis F. C., Maciel-Guerra A. T., Sartorato E. L.

Journal of Applied Genetics

2004

tom 45

nr 2

Ograniczanie wyników

3 Journal of Applied Genetics

3 Maciel-Guerra A. T.

1 Alexandrino F.

1 Borchers C. F.

1 Gil-da-Silva-Lopes V. L.

1 Guerra-Junior G.

1 Oliveira C. A.

1 Palandi d. M. M.

1 Reis F. C.

1 Sartorato E. L.

1 Soardi F. C.

1 Varella-Garcia M.

1 Vulcani-Freitas T. M.

1 2010

1 2006

1 2004

Wyniki wyszukiwania

Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dupp.89-91,fig.,ref.

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

Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness