Abstract
Molecular genetic analysis of DNA by PCR-VNTR was performed in a family with hereditary retinoblastoma presenting some difficulties in pedigree analysis. PCR-VNTR allowed to perform a more accurate counselling in this family. Analysis of the way of transmission, carrier status exclusion (in two persons) and confirmation (in one) was possible only by VNTR-PCR.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adult
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Base Sequence
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Child, Preschool
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Eye Neoplasms / diagnosis
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Eye Neoplasms / genetics*
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Female
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Genes, Retinoblastoma*
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Genetic Counseling
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Humans
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Male
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Minisatellite Repeats*
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Molecular Sequence Data
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Mutation*
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Pedigree
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Polymerase Chain Reaction / methods*
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Polymorphism, Restriction Fragment Length
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Retinoblastoma / diagnosis
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Retinoblastoma / genetics*