NDLI: Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome.

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Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Gropman, Andrea L. Rogol, Alan Fennoy, Ilene Sadeghin, Teresa Sinn, Stephanie Jameson, Robert Mitchell, Francine Clabaugh, Jaye Lutz-Armstrong, Margaret Samango-Sprouse, Carole A.
Description	Country affiliation: United States Author Affiliation: Gropman AL ( Department of Neurology, Children's National Medical Center, Washington, District of Columbia 20010, USA. agropman@cnmc.org)
Abstract	49, XXXXY is a rare chromosomal syndrome due to double nondisjunction of the replicating X chromosome. Considered a severe variant of XXY or Klinefelter syndrome, boys with this chromosome constitution are assumed to have severe mental retardation (MR) in addition to craniofacial, genital, endocrine, and heart abnormalities. Here, we present a multidisciplinary analysis including the clinical and neurobehavioral aspects of this condition in 20 boys with 49, XXXXY who share a common phenotype and neurobehavioral profile. The phenotypic presentation of the boys with 49, XXXXY shares some characteristics with 47, XXY, but there are also other unique and distinctive features. Previously unappreciated intact nonverbal skills are evident in conjunction with moderate to severe developmental dyspraxia. Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or other factors that warrant further investigation.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Aneuploidy Child Development Chromosomes, Human, X Genetics Chromosomes, Human, Y Cognition Klinefelter Syndrome Physiopathology Psychomotor Disorders Adolescent Child Child, Preschool Humans Infant Psychology Male Syndrome Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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