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  • Title: The influence of parental origin of X chromosome genes on the stature of patients with 45 X Turner syndrome.
    Author: Kochi C, Longui CA, Lemos-Marini SH, Guerra-Junior G, Melo MB, Calliari LE, Monte O.
    Journal: Genet Mol Res; 2007 Jan 18; 6(1):1-7. PubMed ID: 17278084.
    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.
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