First report of mosaic trisomy 12 in a liveborn individual

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

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Abstract

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
Volume14
Issue number3
StatePublished - 1983
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Patil, S. R., Bosch, E. P., & Hanson, J. W. (1983). First report of mosaic trisomy 12 in a liveborn individual. American Journal of Medical Genetics, 14(3), 453-460.