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PubMed · 1736446

[Improved technique--improved diagnosis. An example from cytogenetics].

C H Gravholt·U K Friedrich·J Nielsen
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Abstract

The chromosomes of a severely retarded male with extreme kyphoscoliosis and obesity 20 years were reexamined by in situ hybridization of the centromere region. Partial trisomy 18 was revealed.

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Abnormalities, MultipleAdultCentromereChromosomes, Human, Pair 18CytogeneticsHumansIntellectual DisabilityMaleNucleic Acid HybridizationTrisomyCase ReportsEnglish AbstractJournal Article

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C H Gravholt, U K Friedrich, J Nielsen. 1992-01-20. [Improved technique--improved diagnosis. An example from cytogenetics].. https://pubmed.ncbi.nlm.nih.gov/1736446/

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