- The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?Daniela Q C M Barge-Schaapveld
Department of Clinical Genetics, Academic Medical Centre, UVA, Amsterdam, The Netherlands
Am J Med Genet A 155:1066-72. 2011..As it may no longer be so "atypical," we suggest renaming the entity "distal 16p11.2 deletion," to distinguish it from the common proximal 16p11.2 deletion...
- Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicismKarin Huijsdens-van Amsterdam
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
Mol Cytogenet 5:8. 2012..Therefore, it is most likely that the double trisomy mosaicism arose from two independent events very early in embryonic development. The trisomy 7 and 13 cells were shown to be of maternal origin...