Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/62964
Full metadata record
DC FieldValueLanguage
dc.contributor.authorMartinez-Valenzuela, M.
dc.contributor.authorRivera, H.
dc.contributor.authorMundo-Ayala, J.N.
dc.contributor.authorGonzalez-Mercado, M.G.
dc.contributor.authorDavalos-Rodriguez, I.P.
dc.date.accessioned2015-11-18T23:43:28Z-
dc.date.available2015-11-18T23:43:28Z-
dc.date.issued2010
dc.identifier.urihttp://hdl.handle.net/20.500.12104/62964-
dc.description.abstractBackground: The effects of a balanced X;Autosome translocation [t(X;A)] on the fertility of carrier females led to the definition of the Xq13→q27 region as critical for ovarian function and reproductive lifespan. We describe here a teenager with ovarian failure likely due to a balanced t(X;17)(q22;q25). Case: The 16 year-old patient presented with secondary amenorrhea. She exhibited height of 164 cm, slender habitus, and sexual development Tanner 2. Methods: Hormonal determinations, GTG- and RBG-banded karyotypes, fluorescence in situ hybridization, and human androgen receptor assay. Results: FSH of 141 mIU/ml and LH of 46 mIU/ml); karyotype 46,X,t(X;17)(q22;q25)[30].ish der(X)t(X;17)(17qsubt el+); skewed inactivation of the normal X which was the maternal one as shown by the HUMARA assay. The maternal chromosomes were 46,XX; the father was unavailable. Conclusions: The patient's (X;17) translocation likely accounts for her ovarian failure via an epigenetic down-regulation of ovary expressed 17q25 genes relocated next to the Xq21 POF Critical Region 1 and related to ovarian development and function. Her otherwise inconspicuous phenotype agrees with the preferential inactivation of the normal X-chromosome that preserves the gene homeostasis in women with a balanced t(X;A). Finally, the normal maternal karyotype along with the HUMARA results and the sterility of males carrying a t(X;A) strongly suggests that this t(X;17) was a paternal de novo mutation.
dc.titleA teenager with a t(X;17)(q22;q25) and ovarian failure
dc.typeArticle
dc.relation.ispartofjournalGenetic Counseling
dc.relation.ispartofvolume21
dc.relation.ispartofissue3
dc.relation.ispartofpage269
dc.relation.ispartofpage275
dc.subject.keywordPremature ovarian failure; X-chromosome; X;autosome translocation; Xq critical region
dc.contributor.affiliationMartínez-Valenzuela, M., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Rivera, H., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Mundo-Ayala, J.N., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; González-Mercado, M.G., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Dávalos-Rodríguez, I.P., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
dc.relation.isReferencedByScopus
dc.relation.isReferencedByWOS
dc.identifier.urlhttp://www.scopus.com/inward/record.url?eid=2-s2.0-77957732285&partnerID=40&md5=3df9f0f07addefac42c7b1059e8efe3c
Appears in Collections:Producción científica UdeG (prueba)

Files in This Item:
There are no files associated with this item.


Items in RIUdeG are protected by copyright, with all rights reserved, unless otherwise indicated.