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Down Syndrome

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Miriam Pacurar

on 23 April 2014

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Transcript of Down Syndrome

Causes of Down Syndrome
4% of DS cases
Chromosome 21 and 14
Inherits 2 normal chromosomes 21 and an abnormal chromosome 14 with a segment of chromosome 21
History of Down Syndrome
John Langdon Down
References
Down Syndrome
Trisomy 21 (Nondisjunction)
Translocation
Down Syndrome
Bradley Berman, Fallon Johnson, and Miriam Pacurar
Biology 1101 - 12 K
April 23, 2014

Exchange of chromosomal segments between two nonhomologous chromosomes
Most common autosomal trisomy
Extra genetic material causes delays in a child's development, both mentally and physically
Some require medical attention; others live
healthy lives
Trisomy 21
Down Syndrome was tied to racism and colonisation until recently in the 1970's
In the 20th century Down Syndrome became the most recognized form of mental disability
The first to characterize DS as a
distinct form of mental disability in 1862
Error in cell division - nondisjunction
Embryo with 3 copies of chromosome 21
Prior to or at conception, the 21 pair of chromosomes fail to separate
As embryo develops, extra chromosome is replicated in every cell
95% of DS cases
Mosaicism
Nondisjunction of chromosome 21 takes place in one - but not all - of the initial cell divisions after fertilization
Mixture of cells
46 chromosomes
47 chromosomes
Contain extra chromosome 21
1% of DS cases
Fewer characteristics of DS
https://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/
http://en.wikipedia.org/wiki/John_Langdon_Down
http://kidshealth.org/parent/medical/genetic/down_syndrome.html
http://psyency.com/wp-content/uploads/John_Langdon_Down-e1321467410296.jpg
http://i1.ytimg.com/vi/GsizfxD9tY8/hqdefault.jpg
http://www.nads.org/history/
http://www.nndb.com/people/774/000178240/
http://upload.wikimedia.org/wikipedia/commons/7/7e/Bundesarchiv_Bild_152-04-28,_Heilanstalt_Sch%C3%B6nbrunn,_Kinder.jpg
http://3.bp.blogspot.com/-kIH6hZOGHQM/UfBcEGJeJJI/AAAAAAAAAa0/PwWcV7h3BG4/s1600/women.jpg
http://media.philly.com/images/600*450/20100914_inq_clarke14.jpg
http://www.news-medical.net/health/Down-Syndrome-History.aspx
https://www.youtube.com/watch?v=Ju-q4OnBtNU#aid=P9LfOfPtiQY
http://www.wellcomecollection.org/idoccache/25cfd53a-60fb-4e36-95c8-46935021802a_1_0.jpg
http://en.wikipedia.org/wiki/File:J%C3%A9r%C3%B4me_Lejeune.TIF
https://www.ndss.org/PageFiles/2588/Betsy%20Carson%20Jerome.jpg
http://www.nytimes.com/health/guides/disease/down-syndrome/overview.html?inline=nyt-classifier
http://4.bp.blogspot.com/_tggrri07Ot0/SxRDYLXd2RI/AAAAAAAAACk/q6lEJJxJhJg/s400/IMGP9052.JPG
http://medgyna.livejournal.com/76681.html
http://en.wikipedia.org/wiki/Down_syndrome
http://honorsbiology2010.wikispaces.com/Down's+Syndrome
http://www.confessionsofthechromosomallyenhanced.com/2013/09/and-liebster-award-goes-to.html
http://www.kcdsg.org/images/site/prom_changeat.png
http://d3819ii77zvwic.cloudfront.net/wp-content/uploads/2014/01/jacket.jpg
http://specialedpost.com/wp-content/uploads/2013/07/ds1.jpg
http://jendawnscowgirlup.blogspot.com/2013/01/were-safe-baby-does-not-have-down.html
http://www.thetimesnews.com/polopoly_fs/1.109059.1363038035!/fileImage/httpImage/image.jpg_gen/derivatives/landscape_445/kassidy-pennington-jpg.jpg
http://cdn.sheknows.com/articles/2013/01/Kori/mom-with-child-with-ds.jpg
http://noahsdad.com/wp-content/uploads/2011/06/down-syndrome-syndrom-cute-baby-boy.jpg
http://media-cache-ak0.pinimg.com/236x/d8/40/72/d840726c7238a90a6f1f1ed5359ac691.jpg

Probabilities of DS
Face Shape & Size
• Slanted eyes
• Small ears
A nasal bridge that appears pushed in
• Irregularly shaped mouth and tongue
• Irregular and crooked teeth
Health-Related
Issues of DS
• Intellectual disability
• Heart defects
• Hypothyroidism
• Respiratory infections
• Depression
Exams & Tests
• Echo cardiogram
• ECG
• Heart Murmur
• X-rays of the chest & gastrointestinal tract
Body Shape & Size
Hereditary
DS occurs in people of all races and economic levels, though older women have an increased chance of having a child with DS.
Treatments of DS
Preventions
Support Groups
Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase.
• Learn to advocate for themselves in difficult situations
• Be in a safe environment
A woman's risk of having a child with DS increases
as she gets older. The risk is significantly higher
among women age 35 and older.
Couples who already have a baby
with DS have an increased risk of having
another baby with the condition.

National Down Syndrome Society | www.ndss.org
National Down Syndrome Congress | www.ndscccenter.org
• Height - Short stature
• Weak muscles (Hypotonia)
• A short, wide neck
• Short, stocky arms and legs
Experts recommend genetic counseling for persons with a family history of DS who wish to have a baby.
• Be taught about pregnancy & taking the proper precautions
Individuals with Down Syndrome were:
Institutionalized
Few were treated
Most died in Infancy or early adult life
Forced sterlization of individuals
Early Theories of
Down Syndrome
Inheritable factors
Injuries sustained during birth
Karyotype Techniques in 1950
It became possible to identify abnormalities of chromosomal number and shapes
Jerome Lejeune discovered the DownSyndrome resulted from an extra chromosome
Early name for Down Syndrome
Monoglian idocy
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