The influence of parental origin of X chromosome genes on the stature of patients with 45 X Turner syndrome

The influence of parental origin of X chromosome genes on the stature of patients with 45 X Turner syndrome

Author Kochi, C. Google Scholar
Longui, C. A. Google Scholar
Lemos-Marini, S. H. V. Google Scholar
Guerra, G. -Junior Google Scholar
Melo, M. B. Google Scholar
Calliari, Luis Eduardo Procopio Autor UNIFESP Google Scholar
Monte, O. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Fac Ciencias Med
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.
Keywords Turner syndrome
X chromosome
parental origin
short stature
Language English
Date 2007-01-01
Published in Genetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 6, n. 1, p. 1-7, 2007.
ISSN 1676-5680 (Sherpa/Romeo, impact factor)
Publisher Funpec-editora
Extent 1-7
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000251613400001

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