A Turner syndrome neurocognitive phenotype maps to Xp22.3 |
| |
| Authors: | Andrew R Zinn David Roeltgen Gerry Stefanatos Purita Ramos Frederick F Elder Harvey Kushner Karen Kowal Judith L Ross |
| |
| Affiliation: | (1) Eugene McDermott Center for Human Growth and Development and Department of Internal Medicine, The University of Texas Southwestern Medical School, Dallas, TX, USA;(2) Cooper University Hospital, Robert Wood Johnson Medical School, Camden, NJ, USA;(3) MossRehab Research Institute, Albert Einstein Medical Center, Thomas Jefferson University, Philadelphia, PA;(4) Department of Pathology, The University of Texas Southwestern Medical School, Dallas, TX 75390, USA;(5) Biomedical Computer Research Institute, Philadelphia, PA, USA;(6) Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
