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Title: The influence of parental origin of X chromosome genes on the stature of patients with 45 X Turner syndrome
Authors: Kochi, C.
Longui, C. A.
Lemos-Marini, S. H. V.
Guerra, G. -Junior
Melo, M. B.
Calliari, Luis Eduardo Procopio [UNIFESP]
Monte, O.
Universidade Federal de São Paulo (UNIFESP)
Fac Ciencias Med
Keywords: Turner syndrome
X chromosome
parental origin
short stature
Issue Date: 1-Jan-2007
Publisher: Funpec-editora
Citation: Genetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 6, n. 1, p. 1-7, 2007.
Abstract: Thirty-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.
ISSN: 1676-5680
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