First report of mosaic trisomy 12 in a liveborn individual
- 1 March 1983
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 14 (3) , 453-460
- https://doi.org/10.1002/ajmg.1320140308
Abstract
Trisomy 12 mosaicism was found in a 36‐year‐old woman with minor anomalies, 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.Keywords
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