These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Clinical significance of the parental origin of the X chromosome in turner syndrome.
    Author: Sagi L, Zuckerman-Levin N, Gawlik A, Ghizzoni L, Buyukgebiz A, Rakover Y, Bistritzer T, Admoni O, Vottero A, Baruch O, Fares F, Malecka-Tendera E, Hochberg Z.
    Journal: J Clin Endocrinol Metab; 2007 Mar; 92(3):846-52. PubMed ID: 17192299.
    Abstract:
    CONTEXT: The phenotype in Turner syndrome (TS) is variable, even in patients with a supposedly nonmosaic karyotype. Previous work suggested that there were X-linked parent-of-origin effects on the phenotype. HYPOTHESIS: The TS phenotype is influenced by the parental origin of the missed X chromosome. DESIGN: This was a multicenter prospective study of TS patients and both their parents, determining parental origin of the X-chromosome, and characterizing the clinical phenotype. PATIENTS AND METHODS: Eighty-three TS patients and their parents were studied. Inclusion criteria were TS with karyotype 45,X or 46Xi(Xq). Four highly polymorphic microsatellite markers on the X-chromosome DMD49, DYSII, DXS1283, and the androgen receptor gene and three Y chromosome markers, SRY, DYZ1, and DYZ3. OUTCOME MEASURES: The study determined the correlation between the parental origin of the X chromosome and the unique phenotypic traits of TS including congenital malformations, anthropometry and growth pattern, skeletal defects, endocrine traits, education, and vocation. RESULTS: Eighty-three percent of 45,X retained their maternal X (X(m)), whereas 64% 46Xi(Xq) retained their paternal X (X(p), P < 0.001). Kidney malformations were exclusively found in X(m) patients (P = 0.030). The X(m) group had lower total and low-density lipoprotein cholesterol (P < 0.003), and higher body mass index sd score (P = 0.030) that was not maintained after GH treatment. Response to GH therapy was comparable. Ocular abnormalities were more common in the paternal X group (P = 0.017), who also had higher academic achievement. CONCLUSIONS: The parental origin of the missing short arm of the X chromosome has an impact on overweight, kidney, eye, and lipids, which suggests a potential effect of an as-yet-undetermined X chromosome gene imprinting.
    [Abstract] [Full Text] [Related] [New Search]