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Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()()
As a group, people with the sex chromosome aneuploidy 49,XXXXY have characteristic physical and cognitive/behavioral tendencies, although there is high individual variation. In this study we use magnetic resonance imaging (MRI) to examine brain morphometry in 14 youth with 49,XXXXY compared to 42 ag...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3649771/ https://www.ncbi.nlm.nih.gov/pubmed/23667827 http://dx.doi.org/10.1016/j.nicl.2013.01.003 |
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author | Blumenthal, Jonathan D. Baker, Eva H. Lee, Nancy Raitano Wade, Benjamin Clasen, Liv S. Lenroot, Rhoshel K. Giedd, Jay N. |
author_facet | Blumenthal, Jonathan D. Baker, Eva H. Lee, Nancy Raitano Wade, Benjamin Clasen, Liv S. Lenroot, Rhoshel K. Giedd, Jay N. |
author_sort | Blumenthal, Jonathan D. |
collection | PubMed |
description | As a group, people with the sex chromosome aneuploidy 49,XXXXY have characteristic physical and cognitive/behavioral tendencies, although there is high individual variation. In this study we use magnetic resonance imaging (MRI) to examine brain morphometry in 14 youth with 49,XXXXY compared to 42 age-matched healthy controls. Total brain size was significantly smaller (t = 9.0, p < .001), and rates of brain abnormalities such as colpocephaly, plagiocephaly, periventricular cysts, and minor craniofacial abnormalities were significantly increased. White matter lesions were identified in 50% of subjects, supporting the inclusion of 49,XXXXY in the differential diagnosis of small multifocal white matter lesions. Further evidence of abnormal development of white matter was provided by the smaller cross sectional area of the corpus callosum. These results suggest that increased dosage of genes on the X chromosome has adverse effects on white matter development. |
format | Online Article Text |
id | pubmed-3649771 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-36497712013-10-31 Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()() Blumenthal, Jonathan D. Baker, Eva H. Lee, Nancy Raitano Wade, Benjamin Clasen, Liv S. Lenroot, Rhoshel K. Giedd, Jay N. Neuroimage Clin Article As a group, people with the sex chromosome aneuploidy 49,XXXXY have characteristic physical and cognitive/behavioral tendencies, although there is high individual variation. In this study we use magnetic resonance imaging (MRI) to examine brain morphometry in 14 youth with 49,XXXXY compared to 42 age-matched healthy controls. Total brain size was significantly smaller (t = 9.0, p < .001), and rates of brain abnormalities such as colpocephaly, plagiocephaly, periventricular cysts, and minor craniofacial abnormalities were significantly increased. White matter lesions were identified in 50% of subjects, supporting the inclusion of 49,XXXXY in the differential diagnosis of small multifocal white matter lesions. Further evidence of abnormal development of white matter was provided by the smaller cross sectional area of the corpus callosum. These results suggest that increased dosage of genes on the X chromosome has adverse effects on white matter development. Elsevier 2013-01-17 /pmc/articles/PMC3649771/ /pubmed/23667827 http://dx.doi.org/10.1016/j.nicl.2013.01.003 Text en © 2013 The Authors http://creativecommons.org/licenses/by-nc-sa/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike License, which permits non-commercial use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Article Blumenthal, Jonathan D. Baker, Eva H. Lee, Nancy Raitano Wade, Benjamin Clasen, Liv S. Lenroot, Rhoshel K. Giedd, Jay N. Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()() |
title | Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()() |
title_full | Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()() |
title_fullStr | Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()() |
title_full_unstemmed | Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()() |
title_short | Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()() |
title_sort | brain morphological abnormalities in 49,xxxxy syndrome: a pediatric magnetic resonance imaging study()() |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3649771/ https://www.ncbi.nlm.nih.gov/pubmed/23667827 http://dx.doi.org/10.1016/j.nicl.2013.01.003 |
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