Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray
Consistent handedness and language laterality are two of the most striking behavioral and cognitive asymmetries observed in humans. Alterations in the typical pattern of cerebral laterality, termed “anomalous dominance,” is observed in left-handers and some patients with verbal learning disabilities...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
29 December 1998
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| In: |
Genesis
Year: 1998, Volume: 23, Issue: 3, Pages: 215-229 |
| ISSN: | 1526-968X |
| DOI: | https://doi.org/10.1002/(SICI)1520-6408(1998)23:3<215::AID-DVG7>3.0.CO;2-X |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/https://doi.org/10.1002/(SICI)1520-6408(1998)23:3<215::AID-DVG7>3.0.CO;2-X Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291520-6408%281998%2923%3A3%3C215%3A%3AAID-DVG7%3E3.0.CO%3B2-X 
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| Author Notes: | D.H. Geschwind, J. Gregg, K. Boone, J. Karrim, Anna Pawlikowska‐Haddal, E. Rao, J. Ellison, A. Ciccodicola, M. D'Urso, R. Woods, G A. Rappold, R. Swerdloff, and S.F. Nelson |
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| 520 | |a Consistent handedness and language laterality are two of the most striking behavioral and cognitive asymmetries observed in humans. Alterations in the typical pattern of cerebral laterality, termed “anomalous dominance,” is observed in left-handers and some patients with verbal learning disabilities. We undertook the study of a genetically distinct group of subjects, XXY males (Klinefelter's syndrome; KS), who demonstrate anomalous dominance in a variety of testing paradigms in order to begin to elucidate the molecular basis of anomalous dominance in this population. KS subjects manifest specific verbal learning disability, evidence of altered functional laterality for phonologic processing, and an increase in left-handedness when measured by skill. It is proposed that an alteration in gene dosage in the pseudoautosomal region (PAR) of the sex chromosomes is the most likely explanation for anomalous dominance in these patients. This is especially intriguing in light of previously described genetic models of cerebral laterality that suggest a contributing locus in the PAR, or adjacent high homology regions of the X chromosome. We have developed an ordered DNA microarray covering the X chromosome PAR at high resolution for hybridization with two-color fluorescently labeled probes. We demonstrate the ability to detect changes in hybridization signal that will facilitate efficient large-scale screening of this region for alterations in gene dosage associated with features of anomalous dominance and other cognitive or behavioral phenotypes. Dev. Genet. 23:215-229, 1998. © 1998 Wiley-Liss, Inc. | ||
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