Trisomy 21 and Facial Developmental Instability. JM Starbuck, TM Cole III, RH Reeves, and JT Richtsmeier.

Date: February 2013. Source: American Journal of Physical Anthropology, Volume 151, Issue 1, pp 49-57. Abstract: The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how…

Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome and Siblings. J Starbuck, RH Reeves, and J Richtsmeier.

Date: June 2011. Source: American Journal of Physical Anthropology, 146(4): 560–568. Abstract: Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g.,…

On the Antiquity of Trisomy 21: Moving Towards a Quantitative Diagnosis of Down Syndrome in Historic Material Culture. John M. Starbuck

Date: 2011 Source: Journal of Contemporary Anthropology, Vol. II (2011), Iss. 1. Abstract: Down syndrome was first medically described as a separate condition from other forms of cognitive impairment in 1866. Because it took so long for Down syndrome to be recognized as a clinical entity deserving its own status, several investigators have questioned whether…