Mapping the Neurocognitive Phenotype in Turner Syndrome
Author Information
Author(s): Andrew R. Zinn, David Roeltgen, Gerry Stefanatos, Purita Ramos, Frederick F. Elder, Harvey Kushner, Karen Kowal, Judith L. Ross
Primary Institution: The University of Texas Southwestern Medical School
Hypothesis
An association exists between the defined TS neurocognitive phenotype and deletion of Xp22.3.
Conclusion
Haploinsufficiency of genes in Xp22.3 is responsible for the neurocognitive phenotype in Turner syndrome.
Supporting Evidence
- Deletion of Xp22.3 is sufficient to cause the neurocognitive phenotype.
- Mean TSCS scores differed significantly between TS and control populations.
- Subjects with Xp deletions had similar cognitive scores to those with 45, X TS.
Takeaway
Girls and women with Turner syndrome often have trouble with thinking and learning because of missing parts of their X chromosome.
Methodology
Subjects were assessed for stature, ovarian function, and neurocognitive testing, with genetic analysis including karyotyping and array comparative genomic hybridization.
Potential Biases
Ascertainment bias toward ovarian failure may have influenced results.
Limitations
The study included subjects with unbalanced translocations, which could affect cognitive outcomes.
Participant Demographics
Participants were adult women aged 17-55, including Caucasian, African-American, and Hispanic individuals.
Statistical Information
P-Value
p<0.0001
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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