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)

In spite of the large amount of genetic data obtained on the X chromosome and of the availability of many cloned sequences little is known about the physical map of this chromosome. The construction of large-scale restriction maps is now possible with pulsed field gel methods and data has recently been obtained in the region of band Xq28. We present here results of physical mapping in the Xq27 region, i.e. proximal to the fragile site at Xq27.3 associated with mental retardation, and show physical linkage between the coagulation factor IX gene and the mcf.2 transforming sequence recently localized to Xq27. Our data also indicate partial methylation of some sites in this region, and locate several 'HTF islands', i.e. CpG-rich, unmethylated sequences, containing several sites for 'rare cutter' enzymes, which are believed to be associated with expressed 'housekeeping' genes.
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PMID:Large scale physical mapping in the q27 region of the human X chromosome: the coagulation factor IX gene and the mcf.2 transforming sequence are separated by at most 270 kilobase pairs and are surrounded by several 'HTF islands'. 282 23

Twenty infants aged 2 weeks to 3 months with the diagnosis of bleeding disorder secondary to low prothrombin complex level were studied. Sixty children of the control group were matched to the cases by age +/- 2 weeks, sex and race. The ratio of boys to girls was 2.3:1. The median, mean, and range of age of the cases and controls were 43.5 days, 43.7 days, 21-73 days and 43.5 days, 46.8 days, 26-28 days respectively. Most of them were pale with a mean hematocrit of 23.55%. The partial thromboplastin time and prothrombin time were markedly prolonged. The means of vitamin K dependent coagulation factors II, VII, IX and X were 1.10%, 5.87%, 2.86%, and 4.47% of adult activity, respectively. The clinical manifestations related to the bleeding of the cases were drowsiness and convulsion (95%), pallor (85%), and apparent bleeding (10%). The sites of the bleeding were demonstrated in the cranial cavity (95%), gastrointestinal tract and oral cavity (15%), and skin (5%). Nineteen patients with intracranial hemorrhage had bleeding in the subdural space (79%), intracerebral (42%), intraventricular (32%), and subarachnoid space (5.2%). The mortality rate and permanent brain damage occurred in 10% and 45%, respectively. Only 45% of the cases recovered normally. The permanent neurological sequelaes were hemiparesis (44.4%), microcephaly (33.3%), convulsive disorder (33.3%), mental retardation (33.3%), spasticity (22.2%), and hydrocephalus (11.1%). Breast feeding alone up to the day of study (OR = 7.0, p < 0.005) was found to be a significant risk factor for bleeding in these infants.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Risk factors of bleeding diathesis secondary to low prothrombin complex level in infants: a preliminary report. 788 52

The triplication of a region of chromosome 21 around D21S55 in 21q22.2-22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). To improve the physical map of this region, we screened yeast artificial chromosome (YAC) libraries with ETS2 and ERG sequences. Five selected clones were analyzed by AluPCR, pulsed-field gel electrophoresis, and in situ hybridization. A 1.2-Mg contig, encompassing the protooncogenes ETS2 and ERG, was identified, its restriction map established and compared to the genomic map. ERG is distal to D21S55 and proximal to ETS2. ERG and ETS2 genes are 400 kb apart and in opposite orientations. The contig contains the distal boundary and part of the DCR. Three putative HTF islands were identified.
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PMID:Mapping the Down syndrome chromosome region. Establishment of a YAC contig spanning 1.2 megabases. 806 51

A 28-year-old man presented with mental retardation, peculiar facial features, radioulnar synostosis, hypogonadism, aplasia of the right kidney, a moderate degree of proteinuria, and peripheral cyanosis. The activated partial thromboplastin time was shortened, and the level of plasma factor VIII was high. A chromosomal analysis revealed a 49, XXXXY karyotype. From the 10th hospital day, he suffered from sudden dyspnea following swelling of the left leg. He was diagnosed as having deep vein thrombosis and pulmonary embolism, and was successfully treated with anticoagulant therapy. This is the first case of the 49, XXXXY syndrome complicated with unilateral renal aplasia, proteinuria, and venous thromboembolism.
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PMID:49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. 1564 56

Factor VII deficiency is the least rare among uncommon congenital coagulation disorders. The majority of cases are isolated deficiencies. In some cases, FVII deficiency has been found to be associated with the deficiency in another coagulation factor or with non-coagulation-related abnormalities or defects. The evaluation of all published studies on the subject has shown that the FVII defect has been reported in association with FV, FVIII, FIX, FX, FXI and protein C defects. Furthermore, FVII deficiency has been described in association with bilirubin metabolism disorders, mental retardation, microcephaly, epicanthus, cleft palate and persistence of ductus arteriosus. The most interesting association appears to be that with FX. This has been shown to be due to a deletion in part of the long arm of chromosome 13. This arm contains genes coding for both FVII and FX. Interestingly, this combined coagulation defect has been found to be associated with carotid body tumors and several other malformations. Combined defects in blood coagulation often create diagnostic difficulties since results cannot be explained if a single factor deficiency is assumed. For example the combined FVII and FX defect yields a rather peculiar laboratory picture (prolonged prothrombin time and partial thromboplastin time, but normal thrombin time) that could suggest FII or FV or FX single deficiency and not FVII deficiency, indicating the need for specific factor assays whenever data are confusing. Finally, the elevated incidence of mental and skeletal malformations present in these combined defects indicates the need for a careful evaluation of all these patients lest some aspects of the defect are missed.
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PMID:Congenital combined defects of factor VII: a critical review. 1709 60