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 61-year-old woman presented with circumscribed eczematous eruptions with maceration, erosions and patchy infiltration in the perineum and inframammary regions. A diagnosis of eosinophilic granuloma (cutaneous histiocytosis X) was established. T lymphocytes from a skin biopsy were grown in vitro for three weeks after which chromosomal studies revealed a break or gap at chromosome 16q22 in 15% of the lymphocytes. The addition of alpha-interferon increased the percentage of affected cells to 28%. T lymphocytes from the patient's blood did not show the defect. The biological significance of the chromosomal defect is uncertain. It has been described before in healthy persons, malignant lymphoma, cold urticaria and IgA deficiency, and mental retardation. It has not been seen in patients with eosinophilic granuloma.
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PMID:Eosinophilic granuloma associated with a 16q22 chromosomal defect of cutaneous T lymphocytes. 608 32

The authors report one case of Moya-Moya disease in a 3 month-old infant, who developed microcephaly, mental retardation and tetraparesis. The appearance in the following months of a Raynaud's phenomenon in the upper limbs and of IgA deficiency may be of interest for the understanding of the disease.
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PMID:[Moya-moya disease. Raynaud's phenomenon. IgA deficiency]. 716 20

Deletion of the short arm of chromosome 18 is more difficult to diagnose than most of other chromosomal abnormalities as the phenotypic picture is not specific enough to establish the diagnosis. Mental retardation, short stature, and hypertelorism were some of the prominent features of the syndrome. Some systemic diseases, such as congenital heart disease, hypothyroidism, IgA deficiency, were reported to be associated with this syndrome. We present a 14-month-old male baby with a round face, protruding tongue, hypertelorism, epicanthal folds, short stature, and psychomotor retardation to be a case of chromosome 18 p-. This was a de novo deletion and was not detected till the patient's second admission to our hospital. However, there was no other systemic disease could be found. The experience learned from this patient suggests that individuals with multiple congenital anomalies and psychomotor impairment, regardless of the severity, may warrant cytogenetic analysis.
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PMID:The 18 p- syndrome: report of one case. 817 47

This study presents a clinical report of the Finnish chromosome t(18q; 10p) translocation family with an overview of eight other selected immunoglobulin A (IgA)-deficient 18q deletion (18q-) patients from seven published articles. The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD). Genotype-phenotype correlation study of the unbalanced t(18q-; 10p+) translocation family members and other 18q- syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3-q23 between markers D18S812-18qter. The haplo-insufficiency of the 18q22.3-q23 gene region is suggested to be a cause of the IgAD phenotype in 18q- individuals. This 7 Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD.
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PMID:Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. 1750 1