Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic ...
A considerable and unanticipated plasticity of the human genome, manifested as inter-individual copy number variation, has been discovered. These structural changes constitute a major source of ...
21 with the Texas Rangers, a number that has special significance for the first baseman's family after his daughter was born with Down syndrome. The clinical name for Down syndrome is trisomy 21 ...