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dc.contributor.authorKochi, C.
dc.contributor.authorLongui, C. A.
dc.contributor.authorLemos-Marini, S. H. V.
dc.contributor.authorGuerra, G. -Junior
dc.contributor.authorMelo, M. B.
dc.contributor.authorCalliari, Luis Eduardo Procopio [UNIFESP]
dc.contributor.authorMonte, O.
dc.identifier.citationGenetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 6, n. 1, p. 1-7, 2007.
dc.description.abstractThirty-seven 45 X Turner syndrome patients with confirmed peripheral blood lymphocyte karyotype were initially selected to determine the origin of the retained X chromosome and to correlate it with their parents' stature. Blood samples were available in 25 families. The parental origin of the X chromosome was determined in 24 informative families through the analysis of the exon 1 -CAG repeat variation of the androgen receptor gene. In 70.8% of the cases, the retained X chromosome was maternal in origin and 29.2% was paternal. When we classified the patients according to maternal (Xm) or paternal (Xp) X chromosome, there was a positive correlation between patients' and maternal heights only in the Xm group. There was no correlation with paternal height in either group, and a significant correlation with target height was only observed in the Xm group. In conclusion, maternal height is the best variable correlating with the height of 45 X Turner syndrome patients who retain the maternal X chromosome, suggesting a strong influence of genes located on the maternal X chromosome on stature.en
dc.relation.ispartofGenetics And Molecular Research
dc.rightsAcesso aberto
dc.subjectTurner syndromeen
dc.subjectX chromosomeen
dc.subjectparental originen
dc.subjectshort statureen
dc.titleThe influence of parental origin of X chromosome genes on the stature of patients with 45 X Turner syndromeen
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionFac Ciencias Med
dc.description.affiliationFac Ciencias Med, Dept Pediat, Unit Endocrinol Pediat, Sao Paulo, Brazil
dc.description.affiliationFac Ciencias Med, CIPED, Dept Pediat, Unit Endocrinol Pediat, Campinas, SP, Brazil
dc.description.affiliationFac Ciencias Med, Dept Fisiol, Mol Med Lab, Sao Paulo, Brazil
dc.description.sourceWeb of Science
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