First report of mosaic trisomy 12 in a liveborn individual

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

Research output: Contribution to journalArticle

25 Citations (Scopus)

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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Trisomy
Mosaicism
Intellectual Disability
Fibroblasts
Lymphocytes
Skin

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.

First report of mosaic trisomy 12 in a liveborn individual. / Patil, S. R.; Bosch, E. P.; Hanson, J. W.

In: American Journal of Medical Genetics, Vol. 14, No. 3, 1983, p. 453-460.

Research output: Contribution to journalArticle

Patil, SR, Bosch, EP & Hanson, JW 1983, 'First report of mosaic trisomy 12 in a liveborn individual', American Journal of Medical Genetics, vol. 14, no. 3, pp. 453-460.
Patil, S. R. ; Bosch, E. P. ; Hanson, J. W. / First report of mosaic trisomy 12 in a liveborn individual. In: American Journal of Medical Genetics. 1983 ; Vol. 14, No. 3. pp. 453-460.
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