Copyright Françoise Herrmann
Today is Trisomy 21 Day! So, whatever you do today, remember to do it three times! Or, if that gets too complicated, then count to three, listen to your favorite song three times, eat three apples, or just wear your craziest socks!
Why? Because almost 1 in 700 births in the US results in babies born with a trisomy 21 birth defect, a genetic disease where three copies of chromosome #21, instead of just a single pair, are found at position #21, out of 23 positions of an individual's DNA sequence.
Trisomy at position #21, is the most common genetic defect of all times. It has been called Down’s Syndrome since 1866 when the British physician John Langdon Down first described it. At position #18, the disease is called Edwards’ Syndrome, at position #13, it is called Palau Syndrome. Trisomy at an identified position means that every cell in the body has an extra chromosome copy, thus causing a wide range of symptoms, and well-described afflictions, together referred to as a syndrome.
The discovery of the genetic roots of Down Syndrome as trisomy 21, 50 years ago, in 1959, by a French research team led by Jerôme Lejeune, opened the path for the discovery of other trisomies, and forever changed the fate of children afflicted with these extra chromosomes. Lately, this discovery is also forever changing the related terminology, since trisomy is the more accurate descriptor compared to other eponymous possibilities.
So, don’t forget to update your termbases today, or to create a new flashcard for the term trisomy 21, celebrated 3/21, in honor of all those afflicted with this extra chromosome. March 21, celebrated as World Down Syndrome Day was voted on December 19, 2011 by the UN General Assembly, as UN Resolution 66/149.
References
CDC – Centre for Disease Control and Prevention – Data and Statistics on Down Syndrome
Foundation Jérôme Lejeune
NCBI – National Library of Medicine and Institutes of Health - The 50th anniversary of the discovery of Down syndrome: the past, present, and future of research and treatment of Down syndrome
NICHD – National Institute of Child Health and Development - March is trisomy awareness month
NIH- NLM - National Institutes of Health - National Libary of Medicine - Genetics Home Reference
United Nations – World Down syndrome day March 2019
United Nations Resolution 66/49 adopted by the UN General Assembly on 19 December 2011 re. Wold Down Syndrome Day.
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