Translocation Down Syndrome
Most cases of Down syndrome aren’t inherited. However there is a type of down syndrome called Translocation Down syndrome that effects 3% to 4% of babies. This form of Down Syndrome is inherited.
Most cases of Down syndrome aren’t inherited. However there is a type of down syndrome called Translocation Down syndrome that effects 3% to 4% of babies. This form of Down Syndrome is inherited.
Everyone has two chromosomes, one from mum and one from dad. Down Syndrome can occur when people have two copies of chromosome 21, plus added material from chromosome 21 attached to another chromosome.
However someone can carry the disorder without being affected themselves. Although they do not have signs of Down syndrome, people who carry this are at an increased risk of having children with the condition.
Whenever down syndrome is found in a child, the parents' chromosomes are studied to see whether it was translocation down syndrome which would therefore have been inherited from the parents. If one parent has the translocation chromosome, then the doctor knows the baby inherited the translocation from that parent. The parent will have 45 total chromosomes in each cell of their body, but they will be normal because they still have only two copies of each chromosome. When a person has a rearrangement of chromosome material, with no extra or missing chromosome material, they are said to have a "balanced translocation" or be a "balanced translocation carrier and it will be undetectable."
However someone can carry the disorder without being affected themselves. Although they do not have signs of Down syndrome, people who carry this are at an increased risk of having children with the condition.
Whenever down syndrome is found in a child, the parents' chromosomes are studied to see whether it was translocation down syndrome which would therefore have been inherited from the parents. If one parent has the translocation chromosome, then the doctor knows the baby inherited the translocation from that parent. The parent will have 45 total chromosomes in each cell of their body, but they will be normal because they still have only two copies of each chromosome. When a person has a rearrangement of chromosome material, with no extra or missing chromosome material, they are said to have a "balanced translocation" or be a "balanced translocation carrier and it will be undetectable."
Medication and Treatment
In some cases people with Down syndrome take medication. Down Syndrome causes other problems like congenital heart abnormality, 40% of children with down syndrome suffer from it which may require surgery. This surgery may be major depending on the condition. The most common problem is an atria ventricular septal defect (or hole in the heart). People with Down syndrome may also need to take medication to treat other aspects such as diabetes and thyroid problems.
How does Down syndrome affect a person?
Characteristic features associated with Down syndrome include:
Characteristic facial appearance
Learning disability
Heart abnormalities in 40% of cases
Hearing problems
Over- or under-active thyroid
Respiratory tract problems
Floppiness or poor muscle tone
Loose or bendy joints
Increased risk of developing Alzheimer’s Disease (dementia)
Problems with the intestinal and digestive tract
Characteristic features associated with Down syndrome include:
Characteristic facial appearance
Learning disability
Heart abnormalities in 40% of cases
Hearing problems
Over- or under-active thyroid
Respiratory tract problems
Floppiness or poor muscle tone
Loose or bendy joints
Increased risk of developing Alzheimer’s Disease (dementia)
Problems with the intestinal and digestive tract
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