dd.JPG (Trisomy 21)










  • A chromosomal condition that is associated with intellectual disability
  • A characteristic facial appearance, and poor muscle tone (hypotonia) in infancy

Types of Down Syndrome

  • Not recessive, dominant, nor sex-linked
  • Mutation- Nondisjunction event - nondisjunction happens when the pairs of chromosomes are not splitting up and not going to different spots in the dividing cell

How is it inherited?

  • It is caused by an extra 21st chromosome
  • Down Syndrome are not inherited
  • They are caused by a mistake in cell division during the development of the egg, sperm, or embryo
  • It depends on three types; two of which only depend on the mother's age/health and what goes on during fertilization which is coarse in natural cases uncontrollable

Symptoms

  • A flat facial profile
  • An upward slant to the eye
  • A short neck
  • Abnormally shaped ears
  • White spots on the ins of the eye (called Brushfield spots)
  • A single, deep transverse crease on the palm of the hand

Effects

  • Thyroid, hearing, eye, bone, muscle, nerve, joint, and immune system problems
  • Congenital heart disease
  • Seizure disorders
  • Leukemia, Alzheimer's disease, and other cancers
  • Developmental delay
  • Mental retardation

Treatment

  • Regular checkups and screening
  • Medications
  • Surgery
  • Counseling and support

Statistics of Down Syndrome

  • About 1 in 800 babies is born with Down Syndrome
  • The likelihood of having a baby with Down Syndrome goes up after age 35
  • Affects an equal number of females and males
  • As a woman grows older, she faces a great risk of having a baby with Down Syndrome
  • If the Triple Screen Test, or AEP comes back "positive for Down Syndrome", it means that you have an increased chance of having a baby with Down Syndrome, not that the baby actually has it.

Other information

  • Most people have 23 pairs of chromosomes, but a baby with down syndrome has an extra chromosome (47 instead of 46) or one chromosome has an extra part. This extra genetic material causes problems with the way their bodies develop.
  • Down Syndrome usually has trouble learning and is slower to learn how to talk and take care of themselves.
  • Kids with Down Syndrome can go to regular schools, make friends, enjoy life, and get jobs when they're older.
  • Getting special help early (often when they are just babies and toddlers) can be the key to healthier, happier, more independent lives.
  • No matter what race or nationality the parents are, about 1 out of every 800 babies born has Down Syndrome.
  • Down Syndrome is not contagious, so you can't catch it from someone else. You are born with it.
  • No one gets Down Syndrome later in life.

Images of Down Syndrome

external image downsyndrome1.jpg

external image t21karyo.jpg

external image down1.jpg

Video Clips of Down Syndrome

  • Down syndrome Buddies

http://www.clipsyndicate.com/search/simple/down+syndrome

  • Down Syndrome Adult Assessment

http://www.clipsyndicate.com/publish/video/730166/down_syndrome_adult_assessment

Sources

Pictures:
http://www.lucinafoundation.org/assets/downsyndrome1.jpg
http://www.miscarriage.com.au/images/pages/t21karyo.jpg
http://www.medgadget.com/archives/img/down1.jpg
Information:
http://kidshealth.org/parent/medical/genetic/down_syndrome.html
http://www.nichd.nih.gov/health/topics/down_syndrome.cfm
http://down-syndrome.emedtv.com/down-syndrome/treatment-for-down-syndrome.html

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