Disease Information for Chromosome XXXXY Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Genital Hypoplasia/Male
Penis, small (Micropenis)
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Amniocentesis/Chorion villi enzyme assay/abnormal
Disease Mechanism & Classification
Class
CLASS/Systemic/no comment (category)
Process
PROCESS/Chromosomal disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Dystostosis/craniofacial (ex)
Definition

A sex chromosome aneuploidy with an incidence of 1 in 85,000 male births. Principal findings include radioulnar synostosis, hypogonadism, mental retardation, and speech disorders. Associated disorders ara variable and may include characteristic facies, multiple skeletal abnormalities, and cardiac and genital malformations. Many features are similar to those seen in the Klinefelter syndrome (chromosome XXY syndrome), hence the synonym Klinefelter variant.

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External Links Related to Chromosome XXXXY Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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