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)

High-resolution karyotype analysis was performed on peripheral blood cultures from 26 patients with hereditary colorectal neoplasia. The aims of this study were: first, to determine the frequency of cytogenetically visible chromosome 5q deletions in familial adenomatous polyposis and, thus, whether routine karyotype analysis should be included in screening regimens for affected families; and, second, to search for chromosomal abnormalities in hereditary nonpolyposis colorectal cancer that might assist in localizing the gene or genes responsible. No cytogenetic abnormalities were detected among 21 unrelated patients with familial adenomatous polyposis and five with hereditary nonpolyposis colorectal cancer. We conclude that cytogenetic analysis is of no value in the management of families with typical familial adenomatous polyposis or Gardner's syndrome, and should be confined to those families with atypical features such as mental retardation or facial dysmorphism.
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PMID:Normal high-resolution karyotypes in 26 unrelated individuals with hereditary colorectal neoplasia. 133 71

We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies.
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PMID:Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. 177 38

Chorioretinal and retinal anomalies, among others, have been described in association with true autosomal recessive microcephaly. Accompanying hypertrophy of retinal pigment epithelium has been described in association with Gardner's syndrome. We present the cases of three siblings (two boys and one girl) with true autosomal recessive microcephaly without mental retardation and without associated systemic anomalies who showed hypertrophy of the retinal pigment epithelium similar to that described in Gardner's syndrome. In the boys, these spots were located on a background of fine variations in pigment, with scattered depigmented atrophic areas revealing the sclera in the peripheral and midperipheral fundus. Superadded white spots were located in front of the retinal vessels. The younger boy also had discrete patches of chorioretinal atrophy of 0.5 to 1 disc diameter. The girl, in addition to the hyperpigmented spots, had a diffuse area of chorioretinal atrophy. The anomalies described above suggest that congenital hypertrophy of the retinal pigment epithelium is not unique to Gardner's syndrome.
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PMID:A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation. 339 64

Chromosome analysis of blood cells from a 42-year-old white male with mental retardation, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(q13q15) or del(5)(q15q22). A polymorphic chromosome #22 with enlarged satellites was inherited from the father, who is phenotypically normal, and was probably unrelated to the congenital malformations. This is the first report of a Gardner syndrome patient with an interstitial deletion of 5q.
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PMID:Gardner syndrome in a man with an interstitial deletion of 5q. 378 10