Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 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

In this report we review the data on 75 male patients with extra Y chromosome diagnosed in Leuven in the period 1968-1993 among 98,725 patients (males and females) referred for constitutional chromosomal analysis. Special attention was given to their mental performance and psychosocial functioning. 1. Fifty male with 47,XYY karyotype were diagnosed. This is very close to the incidence of XYY in newborn studies and indicates that the frequency of MR/MCA is not increased in XYY male in general. 2. In the 60 patients with "pure" Y chromosome polysomy, the most frequent indication for karyotyping was the presence of MR and/or characterological problems in the index patients. Mental retardation was mostly borderline to mild, and severe mental retardation was rare. Characterological problems, difficulties in psychosocial integration and psychiatric problems were found in 86% of the mentally retarded versus 24% of the mentally normal men. 3. The 48,XXYY syndrome is characterized by markedly frequent and severe behavioural and psychiatric problems.
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PMID:XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning. 858 46

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