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 ...

Body Dimensions 167.1 x 78.1 x 9.4 mm (6.58 x 3.07 x 0.37 in) ...

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 ...

While cell-free fetal DNA screening is useful in identifying potential chromosomal abnormalities, results from it can easily be misunderstood by parents as diagnoses. In the case of an abnormal Down ...