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Disease Processes ▼
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Disease Information for Chromosome XXXXY Syndrome
- 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)
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- Course/Chronic disorder
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- Child
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- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Chromosomal abnormality (Lab)
- Diagnostic Test Results
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- 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
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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
- 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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