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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

FISH images: (a) Aqua probe for X centromeres that demonstrates an X isodicentric subpopulation. (b) Two Orange/Green signals for Xp extremity on the isodicentric X (with two Aqua signals). (c) No Orange/Green signals for Xq in the isodicentric X (Aqua).
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fig4: FISH images: (a) Aqua probe for X centromeres that demonstrates an X isodicentric subpopulation. (b) Two Orange/Green signals for Xp extremity on the isodicentric X (with two Aqua signals). (c) No Orange/Green signals for Xq in the isodicentric X (Aqua).

Mentions: CBG staining of a new lymphocyte preparation demonstrated the presence of two centromeres in the X rearranged population [46,X,rea(X)] (Figure 3). Finally FISH analysis (kit ToTelVysion (TM) Multicolor DNA probe mixtures (Vysis)), confirmed the presence of two X centomeres in rearranged X chromosomes with 2 Xp extremities and no Xq extremity. In the rearranged X chromosome the Xq extremity was substituted by Xp and pericentrometric Xq region. After FISH analysis the subpopulation previously indicated as 46,X,rea(X) was then redefined as 46,X,idic(X)(q24) (Figure 4).


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)

FISH images: (a) Aqua probe for X centromeres that demonstrates an X isodicentric subpopulation. (b) Two Orange/Green signals for Xp extremity on the isodicentric X (with two Aqua signals). (c) No Orange/Green signals for Xq in the isodicentric X (Aqua).
© Copyright Policy
Related In: Results  -  Collection

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

fig4: FISH images: (a) Aqua probe for X centromeres that demonstrates an X isodicentric subpopulation. (b) Two Orange/Green signals for Xp extremity on the isodicentric X (with two Aqua signals). (c) No Orange/Green signals for Xq in the isodicentric X (Aqua).
Mentions: CBG staining of a new lymphocyte preparation demonstrated the presence of two centromeres in the X rearranged population [46,X,rea(X)] (Figure 3). Finally FISH analysis (kit ToTelVysion (TM) Multicolor DNA probe mixtures (Vysis)), confirmed the presence of two X centomeres in rearranged X chromosomes with 2 Xp extremities and no Xq extremity. In the rearranged X chromosome the Xq extremity was substituted by Xp and pericentrometric Xq region. After FISH analysis the subpopulation previously indicated as 46,X,rea(X) was then redefined as 46,X,idic(X)(q24) (Figure 4).

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