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Down Syndrome

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by

Angeliz Vargas

on 18 February 2013

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Transcript of Down Syndrome

Down Syndrome By: Angeliz Vargas History 1959 Jerome Lejune discovered that individuals with Down Syndrome have 47 chromosomes instead of 46 by using karyotype techniques. 1866 Diagnosis Inheritance Symptoms Treatments Facts 1866 1959 Down Syndrome Down Syndrome Down Syndrome Trisomy 21 Trisomy 21 Trisomy 21 Down Syndrome Trisomy 21 Down Syndrome Down Syndrome Down Syndrome Down Syndrome Trisomy 21 Down Syndrome Down Syndrome Appearance:
small and abnormally shaped head
upward slanting eyes
excess skin
small mouth, big tongue
flattened nose
small ears
Single crease on folds of hands
Big space between first and second toe Slow physical, mental, and social development less than average adult height short attention span John Langdon Down first described the physical appearance of
individuals with Down Syndrome in a published
report. Medical Conditions heart defects when born eye problems Hearing problems dementia sleep apnea no specific BUT... Some individuals need surgery when they:
are born with a gastrointestinal blockage (intestinal contents can't pass)
have certain heart defects besity Stay physically active avoid McDonald's and high-calorie foods Therapy Speech - language skills Physical - movement skills Occupational - performing tasks Chromosomal common nice pose Down Syndrome was originally termed Mongolian Idiocy because of the facial "similarities" between Mongolians and people affected with Down Syndrome. 1961 1961 18 geneticists complained about the embarrassing term Mongolian Idiocy. 18 1965 1965 World Health Organization dropped references to Mongolism 1972 1972 Parent groups changed their name to National
Association for Down Syndrome Change A NAME 1975 1975 US Institutes of Health recommended the elimination of the possessive form Down Syndrome is used in US, Canada, and others
Down's Syndrome is used in UK and others Also known as: Trisomy 21 People with Down Syndrome tend to be obese They should... Amniocentesis:
doctor takes a sample of amniotic fluid to analyze the chromosomes
16 to 22 weeks of pregnancy Chorionic villus sampling (CVS):
Cells from placenta are taken to analyze the chromosomes
11 to 12 weeks of pregnancy B I R T H After Birth Diagnosis: APPEARANCE BABY'S KARYOTYPE to analyze the chromosomes The appearance is a hint for the doctor to order a The karyotype will show an extra chromosome 21 About 2% of cases are inherited Down syndrome is usually caused by a mistake during cell division GENETIC VARIATIONS 3 3 THAT CAUSE DOWN SYNDROME 1 1 Trisomy 21 90% of the cases of Down syndrome Individual has 3 copies of chromosome 21 in all cells caused by abnormal cell division in sperm or egg cell during development 2 2 Mosaic Down syndrome RARE SOME cells have three copies of Chromosome 21 CAUSED by abnormal cell division AFTER fertilization 3 3 Translocation
Down syndrome Can be inherited 4% of the cases of Down syndrome Translocation: a chromosome segment attaches to another chromosome This usually happens with chromosomes 14 and 21 A segment from chromosome 21
attaches to chromosome 14 One daughter cell receives two chromosome 21s. The other receives none. gamete with two chromosome 21s + normal gamete equals zygote with three chromosome 21s One parent is a balanced carrier (has rearranged chromosomes, but no extras).
The parent does not have Down syndrome.
The translocation can be inherited. Works Consulted AGED MOMS = MORE RISK FOR ABNORMAL DIVISION Having a child at age: 35 = 1 in 400 chance at having a baby with Down syndrome 40 = 1 in 35 chance of having a baby with Down syndrome Most babies with Down syndrome are born to young women because they have more babies 49 years old leukemia out of every DOWN SYNDROME 1 700-800 children are born with 1 700-800 1983 1983 life expectancy 25 years old Today's 60 years old life expectancy Today's "History of Down Syndrome." [Online] Available< http://downsyndrome.com/history-of-
down-syndrome/>, 14 January 2011; 17 February 2013. "Down Syndrome." [Online] Available< http://www.mayoclinic.com/health/down-
syndrome/DS00182/>, 7 April 2011; 17 February 2013. Zieve, David. "Down Syndrome." [Online] Available<
http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm>, 16 May 2012; 17 February 2013. "Down Syndrome." [Online] Available< http://ghr.nlm.nih.gov/condition/down-
syndrome>, 11 February 2013; 17 February 2013. Gregory, Michael J. "Genetics - Part 3: Human Genetics." [Online] Available<
http://faculty.clintoncc.suny.edu/faculty/michael.gregory/files/bio%20101/bio%20101%20lectures/genetics-%20human%20genetics/human.htm>; 17 February 2013. "Down Syndrome Facts. " [Online] Available< http://www.ndss.org/Down-
Syndrome/Down-Syndrome-Facts/>, 2012; 17 February 2013. Prenatal Testing Results Different symptoms/medical conditions can be treated separately Titled "mosaic" because there is a mix of abnormal (3 chromosome 21s) and normal cells
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