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Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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Altered Brain Structure in Infants with Turner Syndrome.

M L Davenport1, E Cornea2, K Xia2

  • 1Department of Pediatrics, University of North Carolina at Chapel Hill, North Carolina, 27599, USA.

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|June 20, 2019
PubMed
Summary
This summary is machine-generated.

Turner syndrome (TS) brain structure differences are present at one year of age. These neuroanatomical alterations in infants with TS suggest early developmental origins for the condition.

Keywords:
MRITurner syndromeinfantneuroimaging

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Turner syndrome (TS) is a genetic condition affecting females due to X monosomy.
  • TS is linked to cognitive and behavioral issues, with neuroimaging showing altered brain structure in older individuals.
  • Previous studies are limited by age and potential effects of hormone therapy, leaving early developmental origins unclear.

Purpose of the Study:

  • To investigate brain structure in infants with Turner syndrome.
  • To determine if neuroanatomical differences are present at one year of age in TS.

Main Methods:

  • High-resolution structural MRI scans were acquired from 26 infants with TS at one year of age.
  • Infant brains were compared to those of 47 typically developing females and 39 typically developing males.

Main Results:

  • Infants with TS exhibited decreased gray matter volumes in premotor, somatosensory, and parietal-occipital cortex.
  • These neuroanatomical differences mirror those observed in older individuals with TS.
  • The findings indicate that the TS neuroanatomical profile is established by one year of age.

Conclusions:

  • Altered brain structure in Turner syndrome is evident as early as one year of age.
  • This suggests a stable phenotype with prenatal or early postnatal origins.
  • Early neuroanatomical differences in TS may underlie associated cognitive and behavioral characteristics.