Terminology: World Trisomy 21 Day

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

https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html

Foundation Jérôme Lejeune

https://www.fondationlejeune.org/trisomie-21/

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

https://www.ncbi.nlm.nih.gov/pubmed/19636252

NICHD – National Institute of Child Health and Development - March is trisomy awareness month                                                                                                                                

https://www.nichd.nih.gov/newsroom/resources/spotlight/031513-trisomy

NIH- NLM - National Institutes of Health - National Libary of Medicine - Genetics Home Reference

https://ghr.nlm.nih.gov/chromosome/21

United Nations – World Down syndrome day March 2019

https://www.un.org/development/desa/disabilities/news/dspd/world-down-syndrome-day-21-march-2019.html

United Nations Resolution 66/49 adopted by the UN General Assembly on 19 December 2011 re. Wold Down Syndrome Day.

https://undocs.org/A/RES/66/149

March 21 - Trisomy 21 Day

Copyright © Françoise Herrmann

Translators, please update your termbases!

In 2006, March 21 was declared the International Trisomy 21 Syndrome Day (also known as Down’s Syndrome Day). This date was chosen because it contains the scientific explanation of this condition affecting about 1 in 1000 live births worldwide [WHO].

 Indeed Trisomy 21 Syndrome arises as an extra 3^rd chromosome in what is normally a pair of chromosomes in position No. 21.  For people affected with Trisomy 21, this extra chromosome at position 21 is present in every single cell, and it thus causes a whole array of symptoms and conditions which are well described and all part of the Trisomy 21 Syndrome.

Since the breakthrough discovery of Trisomy 21 (the genetic cause of Down’s Syndrome) in 1959, other trisomies have been identified such as Trisomy 18 (Edward's Syndrome) and Trisomy 13 (Patua’s Syndrome), which may be detected via ultrasound and other tests during pregnancy.

The eponymic term “Down’s Syndrome”,  a term bearing the name of the 19^th century British physician John Langdon Down who first described this condition, should probably be completely replaced by the new Trisomy 21 explanatory designation. This is because however empathetic Sir Langdon Down’s description of Trisomy 21, it was exclusively based on observation and racial feature characterization, which appears both truly offensive in the 21^st century, and completely erroneous. 

Down’s description termed Observations on the ethnic characteristics of idiots [Down,  1866] purported that various conditions could be characterized according to ethnic feature, and in particular that people affected with Trisomy 21 could be classified as “idiots with Mongolian features”, hence the term “mongolism” or “mongloid” that is also applied to people born with Trisomy 21.

Hard to believe… In any event this is one huge indicator of how much very respectful misunderstanding has surrounded people with Trisomy 21. A situation that is acknowledged by the NIH, for example, noting that 50 years after the discovery of Trisomy 21, the term "mongolism" is still widely and inappropriately used [NIH].

 If you would like to continue to tip the scales towards access and equality for all in celebration of this extra chromosome day, visit http://www.worlddownsyndromeday.org/wdsd-2014

 Or, you could just think 2 and add a third something to whatever..     .

Being born with Trisomy 21 is after all having something extra that no one else has.

References

Down, J.L. (1866). Observations on an ethnic classification of idiots. London Hospital Reports, 2:259-262. http://www.neonatology.org/classics/down.html

WDSD – World Down Syndrome Day

http://www.worlddownsyndromeday.org/wdsd-2014
NIH- National Institutes of Health
http://www.ncbi.nlm.nih.gov/pubmed/19636252  
WHO - World Health Organization
http://www.who.int/genomics/public/geneticdiseases/en/index1.html