Trisomy 12p mosaicism syndrome
- 1 February 1990
- journal article
- case report
- Published by Wiley in Journal of Intellectual Disability Research
- Vol. 34 (1) , 75-80
- https://doi.org/10.1111/j.1365-2788.1990.tb01517.x
Abstract
A case of trisomy 12p mosaicism originating de novo in a 21-year-old profoundly mentally handicapped female who presented with severe behaviour problems is described. The 12p syndrome has been confirmed by clinical, cytogenetic and biochemical studies. The findings are compared with those of other cases with trisomy 12p arising de novo.Keywords
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