Term
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Definition
| AR; cerebellar ataxia, telengiectasia, groth retardation, immoglobulin defiency, predisposition to malignancy; cytogentic effect--> DNA repair defects, chromatid repair |
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Term
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Definition
| AR; dwarfism, sun-sensitive, butterfly rash on face, perdisposition to malignancy; Cytogenic effects--> increased frequency of sister chromatid exchange (SCE) |
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Term
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Definition
| AR; short stature, radial hypoplasia, anemia, pancytopenia, bronzing of skin, predisposition to leukemia; cytogenic effect--> chromosome breakage and non-homologous interchange |
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Term
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Definition
| X-linked; Mental retardation, marco-orchidism, large ears and prominent jaw; cytogentic effect--> fragil set @ Xq27.3 |
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Term
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Definition
| AR; immunodefiency, centromere instability, fetal anomalies cytogenic effect--> hypomethylation of specific DNA sequences, association of centromere of chromosomes 1, 9, 16 |
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Term
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Definition
| AR; Growth retardation, developmental delay, limb anomalies, craniofacial deformities; cytogenic effects--> separation of heterochromatic regions "railroad tracts" sister chromatid |
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Term
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Definition
| AR; sensitivitly to the sunlight, skin chnages, predisposition to malignancy; cytogenic effect--> excision repair defects, increased SCE rate after exposure to UV light or chemical carcinogens |
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