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Genomics|Features|Down Syndrome

Down Syndrome

Down Syndrome: Registry and Recent Insights - January 28, 2015

CDC information: Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body

NIH launches tool to advance Down syndrome research, Jan 27

DS-Connect®: The Down Syndrome Registry

Pharmacological approaches to improving cognitive function in Down syndrome: current status and considerations.
Gardiner KJ. Drug Des Devel Ther. 2014 Dec 17;9:103-125.

Is apolipoprotein E4 an important risk factor for dementia in persons with Down syndrome?
Rohn TT, et al. J Parkinsons Dis Alzheimers Dis. 2014 Dec 8;1(1).

The prevalence of congenital hearing loss in neonates with Down syndrome.
Tedeschi AS, et al. J Pediatr. 2015 Jan;166(1):168-171

Mosaicism for trisomy 21: A review.
Papavassiliou P, et al. Am J Med Genet A. 2015 Jan;167(1):26-39

Providing information about prenatal screening for Down syndrome: a systematic review.
Skjøth MM, et al. Acta Obstet Gynecol Scand. 2015 Feb;94(2):125-32.

Care of the adult patient with Down syndrome.
Ross WT, et al. South Med J. 2014 Nov;107(11):715-21.

Down Syndrome Awareness Month: Genetics and Public Health - October 9, 2014

CDC information:  Each year, about 6,000 babies born in the United States have Down syndrome. Down syndrome is the most common chromosomal condition diagnosed in newborns in the United States

CDC information: Facts about Down Syndrome 

CDC data and statistics on Down Syndrome

New research: A recent article examined the differences in hospital resource use between children with Down syndrome who also had another major birth defect, mainly congenital heart defects, and children with Down syndrome who did not have another major birth defect.  This study provides useful information for evaluating patterns of hospital resource use and associated costs for children with Down syndrome. Read the Key Findings to the article.

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma. 
Gekas J, et al. Appl Clin Genet. 2014 Jul 7;7:127-31.

Domains of genome-wide gene expression dysregulation in Down's syndrome. 
Audrey Letourneau, et al. Nature, (2014)