The physical phenotype of girls and women with Turner syndrome is not X-imprinted

Carolyn A. Bondy, Lea Ann Matura, Nicole Wooten, James Troendle, Andrew R. Zinn, Vladimir K. Bakalov

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


Certain behavioral and metabolic aspects of Turner syndrome (TS) are attributed to X-chromosome genomic imprinting. To investigate the possible contribution of imprinting to the physical features of the TS phenotype in live-born individuals, we genotyped the single normal X-chromosome in subjects with TS who all underwent a comprehensive evaluation as part of the NIH genotype-phenotype protocol. All had physical examinations, auxological measurements and imaging of the renal and cardiovascular systems. Absolute height and height as a percent of predicted height was the same in XM (n = 56) and XP (n = 23) subjects that had reached final height and were not growth hormone treated. Interestingly, adult height was significantly correlated with maternal but not paternal heights in both XM and XP groups. Neck webbing was found in 35% of the XM (n = 133) and 22% of the XP (n = 50) groups (P = 0.11). Renal anomalies were present in 24% of XM and 25% of XP groups (P = 0.9). Bicuspid aortic valve was found in 26% of XM and 24% of XP groups (P = 0.83), and any cardiovascular anomaly (abnormal aortic valve, aortic coarctation, elongated transverse aortic arch, anomalous pulmonary venous connection, left superior vena cava) affected 55% of XMand 52% of XP groups. Thus, we found no evidence for X-linked genomic imprinting effects on stature or lymphatic, renal or cardiovascular development in TS. Our sample size was sufficient to exclude such effects within 95% confidence limits. We did demonstrate a selective maternal effect on final stature that was independent of X-chromosome origin, suggesting potential autosomal imprinting effects on growth revealed by X monosomy.

Original languageEnglish (US)
Pages (from-to)469-474
Number of pages6
JournalHuman genetics
Issue number3-4
StatePublished - May 2007


  • Aortic valve
  • Congenital heart disease
  • Genomic imprinting
  • Neck webbing
  • Renal defects
  • Stature
  • X-chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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