Document Detail

Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations.
MedLine Citation:
PMID:  23335129     Owner:  NLM     Status:  MEDLINE    
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.
Andrea Gropman; Carole A Samango-Sprouse
Related Documents :
24173049 - Biochemical and molecular diagnostics of thinopyrum bessarabicum chromosomes in triticu...
3847349 - Fertilization of a colchicine-treated gamete of the fern marsilea vestita.
24265079 - Genetic control of α-amylase production in wheat.
24258949 - Characterization of nuclear and cytoplasmic information in the progeny of a somatic hyb...
24260639 - Heterochromatin heterogeneity in hypostomus prope unae (steindachner, 1878) (siluriform...
25125939 - Clinical correlates of autosomal chromosomal abnormalities in an electronic medical rec...
10611079 - Dynamic imaging of the metaphase ii spindle and maternal chromosomesin bovine oocytes: ...
9822579 - Imprinted control of gene activity in drosophila.
10899669 - Genetic aberrations in oral or head and neck squamous cell carcinoma 2: chromosomal abe...
Publication Detail:
Type:  Journal Article; Review     Date:  2013-01-18
Journal Detail:
Title:  American journal of medical genetics. Part C, Seminars in medical genetics     Volume:  163C     ISSN:  1552-4876     ISO Abbreviation:  Am J Med Genet C Semin Med Genet     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-29     Completed Date:  2013-05-20     Revised Date:  2013-09-16    
Medline Journal Info:
Nlm Unique ID:  101235745     Medline TA:  Am J Med Genet C Semin Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  35-43     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Medical Center, Washington, DC 2001, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosomes, Human, X*
Chromosomes, Human, Y*
Cognition Disorders / genetics*,  physiopathology
Genetic Variation / genetics*
Nervous System Diseases / genetics*,  physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Preparation of Highly Functionalised Benzofurans from ortho-Hydroxyphenones and Dichloroethylene: Ap...
Next Document:  Angiotensin II receptor blockade ameliorates systemic fibrosis in the mouse.