Open AccessAssociation of Parental Origin with Clinical Profile in Klinefelter Syndrome
Author(s) -
Ranganath Vallabhajosyula,
Sayee Rajangam
Publication year - 2015
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2015/8291.5612
Subject(s) - klinefelter syndrome , proband , karyotype , genomic imprinting , genetics , biology , supernumerary , turner syndrome , x chromosome , chromosome , gene , mutation , endocrinology , anatomy , gene expression , dna methylation
Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the association of the same on clinical profile was less reported. The detailed clinical phenotype when studied with the known origin of extra X may possibly explain the imprinting effect that may be helpful to derive diagnostic criteria in the syndrome. In the present study, we investigated the parental-of-origin of extra X chromosome in Klinefelter syndrome probands with an aim to report the association between the phenotype with that of its karyotype and the parental origin of supernumerary X.