First report of mosaic trisomy 12 in a liveborn individual

S. R. Patil, E. P. Bosch, J. W. Hanson

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Trisomy 12 mosaicism was found in a 36-year-old woman with minor abnormalities, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a 'complete' trisomy 12 in a liveborn individual.

Original languageEnglish (US)
Pages (from-to)453-460
Number of pages8
JournalAmerican journal of medical genetics
Issue number3
StatePublished - 1983

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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