Research

Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

Sara Lissoni^1,2 , Simona Baronchelli¹ , Nicoletta Villa² , Valeria Lucchini³ , Enrico Betri⁴ , Pietro Cavalli⁵ and Leda Dalprà^1,2

¹  Department of Neuroscience and Biomedical Technologies, University of Milan-Bicocca, via Cadore 48, 20052, Monza, Italy

²  Medical Genetics Lab, Department of Clinical Pathology, HS. Gerardo, via Pergolesi 33, 20052, Monza, Italy

³  Department of Clinical Pathology, HS. Gerardo, via Pergolesi 33, 20052, Monza, Italy

⁴  Department of Pathology, Istituti Ospitalieri Hospital, Viale Concordia 1, 26100, Cremona, Italy

⁵  Medical Genetics Lab, Istituti Ospitalieri Hospital, Viale Concordia 1, 26100, Cremona, Italy

author email corresponding author email

Molecular Cytogenetics 2009, 2:19doi:10.1186/1755-8166-2-19

Published:	27 September 2009

Abstract

Background

Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases are associated with translocations involving X and Y chromosomes.

This study shows the cytogenetic and molecular analysis of a POF patient came to our attention as she developed a left ovary choriocarcinoma at the age of 10 and at 14 years of age she presented secondary amenorrhea with elevated levels of gonadotropins.

Results

Breakpoint position on X and Y chromosomes was investigated using Fluorescent In Situ Hybridisation (FISH) with a panel of specific BAC probes, microsatellite analysis and evaluation of copy number changes and loss of heterozigosity by Affymetrix^® GeneChip platform (Santa Clara, CA, USA). Patient's karyotype resulted 46, X, der(Y)t(X;Y)(q13.1;q11.223). X inactivation study was assessed by RBA banding and showed preferential inactivation of derivative chromosome. The reciprocal spatial disposition of sexual chromosome territories was investigated using whole chromosome painting and centromeres probes: patient's results didn't show a significant difference in comparison to normal controls.

Conclusion

The peculiar clinical case come to our attention highlighted the complexity of POF aetiology and of the translocation event, even if our results seem to exclude any effect on nuclear organisation. POF phenotype could be partially explained by skewed X chromosome inactivation that influences gene expression.