Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure
| Autor: | N. Bourcigaux, S. Christin-Maitre, Moncef Benkhalifa, Lina Finkel, Maud Pasquier, Gérard Tachdjian, Ghislaine Rousseau, Marie-France Portnoï, Azzedine Aboura, Tabassome Simon |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
medicine.medical_specialty endocrine system diseases Biology Primary Ovarian Insufficiency Short Stature Homeobox Protein Gene duplication medicine Humans X chromosome In Situ Hybridization Fluorescence Oligonucleotide Array Sequence Analysis Genetics Chromosome Aberrations Homeodomain Proteins Chromosomes Human X Autosome medicine.diagnostic_test Rehabilitation Cytogenetics Obstetrics and Gynecology Nucleic Acid Hybridization medicine.disease Molecular biology female genital diseases and pregnancy complications Premature ovarian failure Reproductive Medicine Chromosome abnormality Female Chromosome Deletion Fluorescence in situ hybridization Comparative genomic hybridization |
| Zdroj: | Human reproduction (Oxford, England). 23(1) |
| ISSN: | 1460-2350 |
| Popis: | Background Premature ovarian failure (POF) is defined as amenorrhoea for >6 months, occurring before the age of 40, with an FSH serum level in the menopausal range. Although Xq deletions have been known for a long time to be associated with POF, the mechanisms involved in X deletions in order to explain ovarian failure remain unknown. In order to look for potentially cryptic chromosomal imbalance, we used high-resolution genomic analysis to characterize X chromosome deletions associated with POF. Methods Three patients with POF presenting terminal Xq deletions detected by conventional cytogenetics were included in the study. Genome wide microarray comparative genomic hybridization (CGH) at a resolution of 1 Mb and fluorescence in situ hybridization (FISH) was performed. Results Microarray CGH and FISH studies characterized the three deletions as del(X)(q21.2), del(X)(q21.31) and del(X)(q22.33). Microarray CGH showed that the del(X)(q21.31) was also associated with a Xpter duplication including the SHOX gene. In these patients with POF, deletions or duplications of autosomes have been excluded. Conclusion This study is the first one using microarray in patients with POF. It demonstrates that putative X chromosome deletions can be associated with other chromosomal imbalances such as duplications, and therefore illustrates the use of microarray CGH to screen chromosomal abnormalities in patients with POF. |
| Databáze: | OpenAIRE |
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