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Journal article
EFFECTS OF SEX CHROMOSOME ANEUPLOIDIES ON BRAIN DEVELOPMENT: EVIDENCE FROM NEUROIMAGING STUDIES
Developmental disabilities research reviews, v 15(4), pp 318-327
01 Jan 2009
PMID: 20014372
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the effects of different dosages of sex chromosome genes on brain development may help to understand the basis for functional differences in affected individuals. It may also be informative regarding how sex chromosomes contribute to typical sexual differentiation. Studies of 47,XXY males make up the bulk of the current literature of neuroimaging studies in individuals with supernumerary sex chromosomes, with a few small studies or case reports of the other SCAs. Findings in 47,XXY males typically include decreased gray and white matter volumes, with most pronounced effects in the frontal and temporal lobes. Functional studies have shown evidence of decreased lateralization. Although the hypogonadism typically found in 47,XXY males may contribute to the decreased brain volume, the observation that 47,XXX females also show decreased brain volume in the presence of normal pubertal maturation suggests a possible direct dosage effect of X chromosome genes. Additional X chromosomes, such as in 49,XXXXY males, are associated with more markedly decreased brain volume and increased incidence of white matter hyperintensities. The limited data regarding effects of having two Y chromosomes (47,XYY) do not find significant differences in brain volume, although there are some reports of increased head size. Published 2009 Wiley-Liss, Inc(dagger) Dev Disabil Res Rev 2009;15:318-327.
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Details
- Title
- EFFECTS OF SEX CHROMOSOME ANEUPLOIDIES ON BRAIN DEVELOPMENT: EVIDENCE FROM NEUROIMAGING STUDIES
- Creators
- Rhoshel K. Lenroot - National Institute of Mental HealthNancy Raitano Lee - National Institute of Mental HealthJay N. Giedd - National Institute of Mental Health
- Publication Details
- Developmental disabilities research reviews, v 15(4), pp 318-327
- Publisher
- Wiley
- Number of pages
- 10
- Grant note
- ZIAMH002794 / NATIONAL INSTITUTE OF MENTAL HEALTH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Mental Health (NIMH) Z99 MH999999 / Intramural NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Psychological and Brain Sciences (Psychology)
- Web of Science ID
- WOS:000273207500007
- Scopus ID
- 2-s2.0-73849105651
- Other Identifier
- 991019296760004721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Clinical Neurology
- Neurosciences
- Pediatrics
- Psychiatry