Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 56-yr-old man with hypogonadism, gynecomastia, and mental retardation was evaluated for chromosome constitution and thrombocytopenia. Chromosomal analysis demonstrated the mosaicism of 48, XXYY and 47, XXY in the peripheral lymphocytes. Twenty out of twenty-five cells were 48, XXYY karyotype and the remaining five were 47, XXY karyotype. Thrombocytopenia was the EDTA-dependent pseudothrombocytopenia type 1 (platelet agglutination). Serological examination suggests that the platelet agglutinin belongs to IgM-kappa type. The present case exhibited both EDTA-dependent pseudothrombocytopenia and the 48, XXYY syndrome. Although this combination may have occurred purely by change, the possibility of whether or not the mosaicism of lymphocytes produces platelet agglutinin remains to be clarified.
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PMID:48, XXYY syndrome associated with ethylenediaminetetraacetic acid (EDTA)-dependent pseudothrombocytopenia. 156 36

The authors report a patient affected with mental retardation, dysarthria, bilateral testicular hypoplasia and extensive ulcers of the lower limbs. Clinical study and laboratory tests revealed 48,XXYY syndrome. The authors confirm the importance of differential diagnosis from Klinefelter syndrome, illustrating the parameters and the pathology of both syndromes. They discuss the hypotheses concerning the pathogenesis of the ulcerations, and stress the importance of clinical and genetic characterization, leading to a differentiated prognosis of social capacity and prospect of working.
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PMID:A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. 238 88

The 48,XXYY syndrome is a form of hypergonadotropic hypogonadism, characterized by tall statures, aggressive behavior, mental retardation, and stasis changes reflecting vascular insufficiency. We report a 25-year-old male with this syndrome showing a peripheral neuropathy and stasis dermatitis which were both reversed by administration of testosterone. Electrophysiologic studies, plethysmography, and thermography indicated that this treatment improved nerve conductivity and peripheral circulation. We postulate that in 48,XXYY syndrome a decrease in testosterone may result in peripheral neuropathy via nerve ischemia.
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PMID:Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome. 1112 5