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A case of premature ovarian failure in a 33-year-old woman.

Colao E, Granata T, Vismara MF, Bombardiere F, Nocera D, Luciano E, Perrotti N, Malatesta P - Case Rep Genet (2013)

Bottom Line: Result(s).Turner-like diagnosis.Conclusion(s).

View Article: PubMed Central - PubMed

Affiliation: Medical Genetics Unit, University Hospital "Policlinico Mater Domini", Magna Graecia University at Catanzaro, Viale Europa, Campus Salvatore Venuta, 88100 Catanzaro, Italy.

ABSTRACT
Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF). Intervention(s). Genetic counseling, karyotyping, FISH study. Result(s). Turner-like diagnosis. Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype.

No MeSH data available.


Related in: MedlinePlus

Comparison between reconstructedidiogram of the idic(X)(q24) and the normal X.
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fig5: Comparison between reconstructedidiogram of the idic(X)(q24) and the normal X.

Mentions: One copy of the SHOX gene is located on each of the sex chromosomes (the X and Y chromosomes) in an area called the pseudoautosomal region, Xp22.33 and Yp11.3 (Figure 5). Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present and are transcriptionally active on both chromosomes. As a result, females (who have two X chromosomes) and males (who have one X and one Y chromosome) have two functional copies of the SHOX gene in each cell.


A case of premature ovarian failure in a 33-year-old woman.

Colao E, Granata T, Vismara MF, Bombardiere F, Nocera D, Luciano E, Perrotti N, Malatesta P - Case Rep Genet (2013)

Comparison between reconstructedidiogram of the idic(X)(q24) and the normal X.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3569886&req=5

fig5: Comparison between reconstructedidiogram of the idic(X)(q24) and the normal X.
Mentions: One copy of the SHOX gene is located on each of the sex chromosomes (the X and Y chromosomes) in an area called the pseudoautosomal region, Xp22.33 and Yp11.3 (Figure 5). Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present and are transcriptionally active on both chromosomes. As a result, females (who have two X chromosomes) and males (who have one X and one Y chromosome) have two functional copies of the SHOX gene in each cell.

Bottom Line: Result(s).Turner-like diagnosis.Conclusion(s).

View Article: PubMed Central - PubMed

Affiliation: Medical Genetics Unit, University Hospital "Policlinico Mater Domini", Magna Graecia University at Catanzaro, Viale Europa, Campus Salvatore Venuta, 88100 Catanzaro, Italy.

ABSTRACT
Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF). Intervention(s). Genetic counseling, karyotyping, FISH study. Result(s). Turner-like diagnosis. Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype.

No MeSH data available.


Related in: MedlinePlus