- Originally names mongolism by John Langdon down in 1866
- Physical features of Down syndrome: oblique angles of eyes, epicanthic skin fold, flat
midface, and large tongue 19th-century mental deficiency was the primary defining
characteristic of Mongolia, behaviorally
- Langdon is credited for providing the first systematic account of condition, classification
system
- Early 1960 growing dissatisfaction with the term mongolism led to alternatives such as
trisomy 21 anomaly, down’s syndrome or anomaly, Langdon Down anomaly, or
congenital acromicria
- Down's syndrome after Mad and his description of the disorder and his grandson
Norman
- Norman was the medical superintendent of Normansfield Asylum opened by John Down
in 1868
- Causes speculated included ( context of the eugenics movement in England) alcohol
use by parents, syphilis, tuberculosis, inherited thyroid dysfunction
- In late 1950 figured out that there were 23 pairs of chromosomes refinement of
visualizing chromosome pairs with karyotyping methods
- 1959 Jerome Lejeune french geneticist established the genetic basis for Down
syndrome: a third copy of the 21 chromosome
- Before karyotyping diagnosis relied on clinical description by observations, karyotyping a
reliable method of diagnoses
- Etiology: Patrica Jacobs Scotland may have been the first to discover trisomy 21 but
Lejeune et al Gauitner and Harper suggested that Lejeune after hearing Jacobs's work
at a conference at McGill University rushed to France to do a paper that was published
two weeks before Jacob.
In some circles, the biology of Down syndrome is regarded as a discovery by the two
research groups
- Chromosomal trisomies occur frequently in humans.s
- In Down syndrome nondisjunction is not a lethal condition, only autosomal trisomy that
allows survival to adulthood
- Translocation - portion of an extra chromosome 21 is attached to chromosome 14,21, or
22
- Nondisjunction occurs after the egg is fertilized and results in trisomy in some but not all
cells called Mosaic
- Down syndrome most common chromosomal disorder associated with intellectual
disability -1 in 700 more than 400,00o people
- Older moms more likely chances of having a kid with Down syndrome
- Neuroanatomy of the brain in those with Down syndrome is similar to the general
population when first-born
- Myelination can be delayed, growth of the frontal lobe slows, the superior temporal gyrus
can narrow, the cerebellum and brainstem smaller, fewer neurons
- Anatomical differences have functional implications for cognition
- Prefrontal cortex difference can affect episodic and working memory
- Physical features of Down syndrome: oblique angles of eyes, epicanthic skin fold, flat
midface, and large tongue 19th-century mental deficiency was the primary defining
characteristic of Mongolia, behaviorally
- Langdon is credited for providing the first systematic account of condition, classification
system
- Early 1960 growing dissatisfaction with the term mongolism led to alternatives such as
trisomy 21 anomaly, down’s syndrome or anomaly, Langdon Down anomaly, or
congenital acromicria
- Down's syndrome after Mad and his description of the disorder and his grandson
Norman
- Norman was the medical superintendent of Normansfield Asylum opened by John Down
in 1868
- Causes speculated included ( context of the eugenics movement in England) alcohol
use by parents, syphilis, tuberculosis, inherited thyroid dysfunction
- In late 1950 figured out that there were 23 pairs of chromosomes refinement of
visualizing chromosome pairs with karyotyping methods
- 1959 Jerome Lejeune french geneticist established the genetic basis for Down
syndrome: a third copy of the 21 chromosome
- Before karyotyping diagnosis relied on clinical description by observations, karyotyping a
reliable method of diagnoses
- Etiology: Patrica Jacobs Scotland may have been the first to discover trisomy 21 but
Lejeune et al Gauitner and Harper suggested that Lejeune after hearing Jacobs's work
at a conference at McGill University rushed to France to do a paper that was published
two weeks before Jacob.
In some circles, the biology of Down syndrome is regarded as a discovery by the two
research groups
- Chromosomal trisomies occur frequently in humans.s
- In Down syndrome nondisjunction is not a lethal condition, only autosomal trisomy that
allows survival to adulthood
- Translocation - portion of an extra chromosome 21 is attached to chromosome 14,21, or
22
- Nondisjunction occurs after the egg is fertilized and results in trisomy in some but not all
cells called Mosaic
- Down syndrome most common chromosomal disorder associated with intellectual
disability -1 in 700 more than 400,00o people
- Older moms more likely chances of having a kid with Down syndrome
- Neuroanatomy of the brain in those with Down syndrome is similar to the general
population when first-born
- Myelination can be delayed, growth of the frontal lobe slows, the superior temporal gyrus
can narrow, the cerebellum and brainstem smaller, fewer neurons
- Anatomical differences have functional implications for cognition
- Prefrontal cortex difference can affect episodic and working memory
