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Year 10 Science Health and disease

Genetic disease: Downs syndrome

Chris Willocks 2007

Downs Syndrome

What are some traits of Downs syndrome?

Downs syndrome

Downs syndrome traits



low muscle tone eyes may have an upward and outward slant nasal bone can be underdeveloped the tongue can have less space and protrude legs and arms are often shorter hands are short and stubby with a single crease across the palm genitals may be small hair is sometimes fine and straight teeth may be slightly smaller and do not appear in normal order delay in sitting, crawling, talking, toileting most have mental retardation in the mild (IQ 5070) to moderate (IQ 3550) range can have heart defects, digestive disorders etc

Downs syndrome karyotype

Trisomy 21
Down syndrome disorders are based on having too many copies of the genes located on chromosome 21. This leads to an overexpression of the genes

Incidence of Down syndrome


Occurs in all races One in every 600 to 700 babies born Probably more Down syndrome babies are conceived, but many miscarriages are due to a chromosome error The number of children born with Down syndrome increases as mothers become older.
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Effect of Mothers age

Effect of mother's age


Mothers in their 40's are much more likely to have a child with Down's syndrome than younger mothers. The eggs produced during ovulation are as old as the mother. There is a greater chance for older eggs to have problems that lead to nondisjunction. Younger mothers (<35 years) who smoke are at an increased risk of having children with Down syndrome.
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Development in childhood
Development is variable Delay in sitting, crawling, talking It is not possible to predict their capabilities Early intervention programs from birth are useful Success at school can vary greatly It is common for children with Down syndrome to need speech therapy to help with expressive language. Fine motor skills are delayed and often lag behind gross motor skills
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Intervention programs

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Life span
The average life expectancy of a person with Down syndrome is 55+, with some people living into their 80's. In 1960 60% of children died before 5 years of age Medical research has totally changed the quality of health of people with Down syndrome.

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Relationships
People with Down syndrome have feelings just like anyone else in the community. Respond to positive expressions of friendship Are hurt and upset by inconsiderate behaviour.

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Ageing parents
What happens to them as their parents age?

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Sex and marriage


People with Down syndrome date, socialise and form on-going relationships In the past it has been unusual for people with Down syndrome to marry Females with Down syndrome menstruate and have been recorded as mothers. There is a 50% chance that their child will have Down syndrome. A proportion of males who have Down syndrome will produce sperm and cannot be considered sterile.
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Detecting Downs

Ultrasound may detect abnormal foetal growth

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Foetal development

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Amniocentesis

Cells from the amniotic fluid are karyotyped

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