Title |
A Turner syndrome neurocognitive phenotype maps to Xp22.3
|
---|---|
Published in |
Behavioral and Brain Functions, May 2007
|
DOI | 10.1186/1744-9081-3-24 |
Pubmed ID | |
Authors |
Andrew R Zinn, David Roeltgen, Gerry Stefanatos, Purita Ramos, Frederick F Elder, Harvey Kushner, Karen Kowal, Judith L Ross |
Abstract |
Turner syndrome (TS) is associated with a neurocognitive phenotype that includes selective nonverbal deficits, e.g., impaired visual-spatial abilities. We previously reported evidence that this phenotype results from haploinsufficiency of one or more genes on distal Xp. This inference was based on genotype/phenotype comparisons of individual girls and women with partial Xp deletions, with the neurocognitive phenotype considered a dichotomous trait. We sought to confirm our findings in a large cohort (n = 47) of adult women with partial deletions of Xp or Xq, enriched for subjects with distal Xp deletions. |
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