Genetic testing, the presence of an extra copy of chromosome 21, a condition often referred to as trisomy 21 is indicative of Down Syndrome.
Down Syndrome is named after Dr. John Langdon Down, the British doctor who first identified the syndrome in 1862. Dr. Langdon Down went on to publicize his theory in 1866.
united kingdom
Down syndrome, Down's syndrome, or trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British Doctor Who described the syndrome in 1866. The disorder was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959. The condition is characterized by a combination of major and minor differences in structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Down syndrome in a baby can be identified with amniocentesis during pregnancy or at birth.
Up or Down?The "D" of Down is always uppercase, i.e., capitalized - it's the name of the man who identified this specific syndrome. As to whether the word "syndrome" should be capitalized, there seems to be no final word on that. Various dictionaries and encyclopedias seem to have different styles.Answers.com goes for the option of spelling it like this: "Down syndrome."(See Related question.)
According to Columbia Encyclopedia, the symptoms of Down syndrome were "first described in 1866 by an English physician, J. Langdon Down." Down syndrome - albeit without this particularly moniker - has been known for many hundreds, if not thousands, of years. It was usually called Mongolism in recent centuries in the UK. Dr. John Langdon Down was the one who did much research on the subject, and the symptoms described by him have been renamed "Down syndrome." To read more about Down syndrome on Answers.com, click on the Related Link.
in 1965 Harry Angelman
down syndrome
Disorders, such as Down's Syndrome, are caused by nondisjunction.
Chromosomal disorders can be observed in a human karyotype. It can show whether there are extra chromosomes, or missing chromosomes, or malformed chromosomes, or whether chromosomes have extra pieces, or missing pieces.
Down syndrome is generally the preferred spelling, although Down's syndrome is sometimes used in American sources.
Most cases of down syndrome are not inherited. Translocation Down syndrome can be inherited.
Down syndrome IS the diagnosis.