The influence of parental origin of X chromosome genes on the stature of patients with 45 X Turner syndrome.
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.
Kochi
C
C
Unidade de Endocrinologia Pediátrica, Departamento de Pediatria, Faculdade de Ciências Médicas, Santa Casa de São Paulo, São Paulo, SP, Brasil. ckochi@uol.com.br
Longui
C A
CA
Lemos-Marini
S H V
SH
Guerra-Junior
G
G
Melo
M B
MB
Calliari
L E P
LE
Monte
O
O
D001827:Body Height / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D010290:Parents; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics; D018911:Trinucleotide Repeats; D014424:Turner Syndrome / Q000235:genetics*
D011944:Receptors, Androgen