A Turner syndrome neurocognitive phenotype maps to Xp22.3.

ABSTRACT:

Background

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.

Methods

Subjects were recruited from North American genetics and endocrinology clinics. Phenotype assessment included measures of stature, ovarian function, and

SUBMITTER: Zinn AR 

PROVIDER: S-EPMC1891305 | biostudies-literature | 2007 May

REPOSITORIES: biostudies-literature