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Am J Obstet Gynecol. 2004 Apr;190(4):1059-62.

Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.

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1
Institute of Human Genetics, Otto von Guericke University Magdeburg, Germany.

Abstract

OBJECTIVES:

In most cases, XX or XY gonadal dysgenesis remains genetically unexplained. In this pilot study we searched for sex-chromosomal mosaicism in gonads of patients with XX or XY gonadal dysgenesis of undetermined origin.

STUDY DESIGN:

Gonadal tissues were analyzed by cytogenetic and interphase fluorescence in-situ hybridization (FISH) analyses in four patients with gonadal dysgenesis and normal female (46,XX) or male (46,XY) karyotypes in lymphocytes.

RESULTS:

Cytogenetic and FISH analyses of the gonads demonstrated in three patients a sex-chromosomal mosaicism. Cytogenetic analysis of gonadal tissue of the fourth patient confirmed the result of the lymphocytes with 46,XX, but FISH analysis revealed in 17% of nuclei only one X-chromosome.

CONCLUSION:

Our data indicate that sex-chromosomal mosaicism in gonads may be a frequent cause of gonadal dysgenesis despite of normal karyotypes in lymphocytes. Therefore, cytogenetic and FISH analyses of gonadal tissue can provide important information in unexplained cases of gonadal dysgenesis.

PMID:
15118641
DOI:
10.1016/j.ajog.2003.09.053
[Indexed for MEDLINE]
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