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 […]Read More
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., […]Read More
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 […]Read More