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Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations.
Am J Med Genet C Semin Med Genet. 2013 Feb 15; 163C(1):35-43.AJ

Abstract

X and Y chromosomal variations including tetrasomy and pentasomy conditions are rare and occur in 1:18,000-1:100,000 male births. The most common sex chromosome aneuploidy is 47, XXY for which there is a rich literature delineating the physical and neurobehavioral phenotype. Although the more complex chromosome aneuploidies 48, XXYY, 48, XXXY, and 49, XXXXY are often compared with 47, XXY (Klinefelter syndrome) because of shared features including tall stature and hypergonadotropic hypogonadism, there is a wider spectrum of physical and cognitive abilities that have recently been delineated. The phenotypic presentation of the boys with more severe aneuploidy shares some characteristics with 47, XXY, but there are also other unique and distinctive features. Previously unappreciated intact nonverbal skills have been demonstrated in association with severe developmental dyspraxia. MRI findings of white matter hyperintensities may underlie cognitive deficits and deserve further study. This report discusses what is known about clinical variability in the XY syndromes collectively evaluated through careful multidisciplinary clinical evaluation including the clinical and neurobehavioral aspects of these conditions. Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or epigenetic factors that warrant further investigation.

Authors+Show Affiliations

Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Medical Center, Washington, DC 2001, USA. agropman@childrensnational.orgNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

23335129

Citation

Gropman, Andrea, and Carole A. Samango-Sprouse. "Neurocognitive Variance and Neurological Underpinnings of the X and Y Chromosomal Variations." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 163C, no. 1, 2013, pp. 35-43.
Gropman A, Samango-Sprouse CA. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. Am J Med Genet C Semin Med Genet. 2013;163C(1):35-43.
Gropman, A., & Samango-Sprouse, C. A. (2013). Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 163C(1), 35-43. https://doi.org/10.1002/ajmg.c.31352
Gropman A, Samango-Sprouse CA. Neurocognitive Variance and Neurological Underpinnings of the X and Y Chromosomal Variations. Am J Med Genet C Semin Med Genet. 2013 Feb 15;163C(1):35-43. PubMed PMID: 23335129.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. AU - Gropman,Andrea, AU - Samango-Sprouse,Carole A, Y1 - 2013/01/18/ PY - 2013/1/22/entrez PY - 2013/1/22/pubmed PY - 2013/5/22/medline SP - 35 EP - 43 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 163C IS - 1 N2 - X and Y chromosomal variations including tetrasomy and pentasomy conditions are rare and occur in 1:18,000-1:100,000 male births. The most common sex chromosome aneuploidy is 47, XXY for which there is a rich literature delineating the physical and neurobehavioral phenotype. Although the more complex chromosome aneuploidies 48, XXYY, 48, XXXY, and 49, XXXXY are often compared with 47, XXY (Klinefelter syndrome) because of shared features including tall stature and hypergonadotropic hypogonadism, there is a wider spectrum of physical and cognitive abilities that have recently been delineated. The phenotypic presentation of the boys with more severe aneuploidy shares some characteristics with 47, XXY, but there are also other unique and distinctive features. Previously unappreciated intact nonverbal skills have been demonstrated in association with severe developmental dyspraxia. MRI findings of white matter hyperintensities may underlie cognitive deficits and deserve further study. This report discusses what is known about clinical variability in the XY syndromes collectively evaluated through careful multidisciplinary clinical evaluation including the clinical and neurobehavioral aspects of these conditions. Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or epigenetic factors that warrant further investigation. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/23335129/Neurocognitive_variance_and_neurological_underpinnings_of_the_X_and_Y_chromosomal_variations_ L2 - https://doi.org/10.1002/ajmg.c.31352 DB - PRIME DP - Unbound Medicine ER -