Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
- 1 January 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (1) , 70-72
- https://doi.org/10.1136/jmg.30.1.70
Abstract
We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.Keywords
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