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Cognitive and neurological aspects of sex chromosome aneuploidies.
Lancet Neurol. 2014 Mar; 13(3):306-18.LN

Abstract

Sex chromosome aneuploidies are a common group of disorders that are characterised by an abnormal number of X or Y chromosomes. However, many individuals with these disorders are not diagnosed, despite established groups of core features that include aberrant brain development and function. Clinical presentations often include characteristic profiles of intellectual ability, motor impairments, and rates of neurological and psychiatric disorders that are higher than those of the general population. Advances in genetics and neuroimaging have substantially expanded knowledge of potential mechanisms that underlie these phenotypes, including a putative dose effect of sex chromosome genes on neuroanatomical structures and cognitive abilities. Continuing attention to emerging trends in research of sex chromosome aneuploidies is important for clinicians because it informs appropriate management of these common genetic disorders. Furthermore, improved understanding of underlying neurobiological processes has much potential to elucidate sex-related factors associated with neurological and psychiatric disease in general.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Hong DS
Stanford University, Stanford, CA, USA.
Reiss AL
Stanford University, Stanford, CA, USA. Electronic address: areiss1@stanford.edu.

MeSH

AneuploidyCognition DisordersHumansKlinefelter SyndromeNervous System DiseasesSex ChromosomesTurner Syndrome

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Review

Language

eng

PubMed ID

24556008

Citation

Hong, David S., and Allan L. Reiss. "Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies." The Lancet. Neurology, vol. 13, no. 3, 2014, pp. 306-18.
Hong DS, Reiss AL. Cognitive and neurological aspects of sex chromosome aneuploidies. Lancet Neurol. 2014;13(3):306-18.
Hong, D. S., & Reiss, A. L. (2014). Cognitive and neurological aspects of sex chromosome aneuploidies. The Lancet. Neurology, 13(3), 306-18. https://doi.org/10.1016/S1474-4422(13)70302-8
Hong DS, Reiss AL. Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies. Lancet Neurol. 2014;13(3):306-18. PubMed PMID: 24556008.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cognitive and neurological aspects of sex chromosome aneuploidies. AU - Hong,David S, AU - Reiss,Allan L, Y1 - 2014/02/17/ PY - 2014/2/22/entrez PY - 2014/2/22/pubmed PY - 2014/4/16/medline SP - 306 EP - 18 JF - The Lancet. Neurology JO - Lancet Neurol VL - 13 IS - 3 N2 - Sex chromosome aneuploidies are a common group of disorders that are characterised by an abnormal number of X or Y chromosomes. However, many individuals with these disorders are not diagnosed, despite established groups of core features that include aberrant brain development and function. Clinical presentations often include characteristic profiles of intellectual ability, motor impairments, and rates of neurological and psychiatric disorders that are higher than those of the general population. Advances in genetics and neuroimaging have substantially expanded knowledge of potential mechanisms that underlie these phenotypes, including a putative dose effect of sex chromosome genes on neuroanatomical structures and cognitive abilities. Continuing attention to emerging trends in research of sex chromosome aneuploidies is important for clinicians because it informs appropriate management of these common genetic disorders. Furthermore, improved understanding of underlying neurobiological processes has much potential to elucidate sex-related factors associated with neurological and psychiatric disease in general. SN - 1474-4465 UR - https://www.unboundmedicine.com/medline/citation/24556008/Cognitive_and_neurological_aspects_of_sex_chromosome_aneuploidies_ DB - PRIME DP - Unbound Medicine ER -