A medical term for having an extra copy of a chromosome is ‘trisomy. ‘ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
What happens if you have trisomy 21?
It is also called trisomy 21. It includes certain birth defects, learning problems, and facial features. A child with Down syndrome also may have heart defects and problems with vision and hearing. How severe or mild these problems are varies from child to child.
Can you have trisomy 21 and be normal?
A rare form is called mosaic trisomy 21. This is when an error in cell division happens after the egg is fertilized. People with this syndrome have both normal cells and some cells with an extra chromosome number 21.
Can a baby with trisomy 21 survive?
Babies that do survive autosomal trisomy can experience a variety of birth defects, mental retardation and shortened life expectancy. The most common autosomal trisomies are Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome).
What are the signs of Down syndrome during pregnancy?
Some common physical signs of Down syndrome include:
- Flat face with an upward slant to the eyes.
- Short neck.
- Abnormally shaped or small ears.
- Protruding tongue.
- Small head.
- Deep crease in the palm of the hand with relatively short fingers.
- White spots in the iris of the eye.
Can a Down syndrome child look normal?
Some of the children with Mosaic Down syndrome that we know do not actually look as if they have Down syndrome – the usual physical features are not obvious. This raises some important and difficult social issues and identity issues for both parents and children, which parents have discussed with us.
Is trisomy 21 more common in males or females?
Overall, the two sexes are affected roughly equally. The male-to-female ratio is slightly higher (approximately 1.15:1) in newborns with Down syndrome, but this effect is restricted to neonates with free trisomy 21.
Can Down syndrome be prevented?
Down syndrome can’t be prevented, but parents can take steps that may reduce the risk. The older the mother, the higher the risk of having a baby with Down syndrome. Women can reduce the risk of Down syndrome by giving birth before age 35.
What is a low risk for trisomy 21?
It is calculated using the nuchal translucency measurement and the special blood tests. Your adjusted risk will be termed “low risk” if the risk is less than 1 in 1000. For example, 1 in 1250, 1 in 1500, 1 in 6000.