Credit Where Credit is Due
June 21, 2007 on 5:18 pm | In Uncategorized | No CommentsThe credit for the discovery for the syndrome initially identified by Dr. John Langdon Down in London during the middle 1800’s was certainly an important finding. Dr. Down was a physician who worked in the various asylums of London and took copious notes in order to better relate his various discoveries as he moved from place to place.However, it wasn’t until the early 1950’s that a French research physician by the name of Jerome Jean Louis Marie Lejeune made a remarkable discovery. Dr. Lejeune was actually a geneticist by profession and for the first time in human history made a startling finding.
Lejeune identified the chromosomal abnormality linked to Down syndrome or mongolism as it was also known at that time. This discovery of the abnormal or extra chromosome attached to the 21st pair of chromosomes was called trisomy 21 or three at the twenty first pair.
This then was the first time in history that any form of chromosomal abnormality was identified and it marked the turning point in the study of cytogenetics.
Dr. Lejeune also is credited with discovering the chromosomal basis for a disorder known as cri-du-chat syndrome or the cry of the cat. It is so called because of the distinct sound of a cry that infants with this syndrome all seem to have. This syndrome is also associated with issues dealing with mental retardation.
Dr. Lejeune was a devout and dedicated anti abortionist who was appointed to head the Pontifical Academy for life by Pope John Paul II.
This contribution to the literature was most certainly a positive turning point in the history of discoveries surrounding Down syndrome.
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