What is Down Syndrome?
In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Usually, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome happens when an individual has a full or partial extra copy of chromosome 21.
This extra genetic material changes the course of development and causes the characteristics associated with Down syndrome. A few of the most physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm - but each person with Down syndrome is a different individual and may have these characteristics to different degrees, or not at all.
One in every 691 babies in the the United States is born with Down syndrome, making Down syndrome the most common genetic condition. About 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.
There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism. Trisomy 21 accounts for 95% of cases. Mosaicism accounts for about 1% of all cases of Down syndrome. Translocation accounts for about 4% of all cases of Down syndrome.
This extra genetic material changes the course of development and causes the characteristics associated with Down syndrome. A few of the most physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm - but each person with Down syndrome is a different individual and may have these characteristics to different degrees, or not at all.
One in every 691 babies in the the United States is born with Down syndrome, making Down syndrome the most common genetic condition. About 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.
There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism. Trisomy 21 accounts for 95% of cases. Mosaicism accounts for about 1% of all cases of Down syndrome. Translocation accounts for about 4% of all cases of Down syndrome.
A doctor can often make an initial diagnosis of Down syndrome at birth based on how the baby looks. A blood test can be done to check for the extra chromosome and confirm the diagnosis.
Other tests that may be done to diagnose Down Syndrome are echocardiogram, ECG, and a x ray.
Persons with Down syndrome need to be closely screened for certain medical conditions. They should have eye exams, hearing tests, dental exams, x rays of the spine, thyroid testing, and females should have pap smears and pelvic exams beginning and during puberty or by age 21.
Other tests that may be done to diagnose Down Syndrome are echocardiogram, ECG, and a x ray.
Persons with Down syndrome need to be closely screened for certain medical conditions. They should have eye exams, hearing tests, dental exams, x rays of the spine, thyroid testing, and females should have pap smears and pelvic exams beginning and during puberty or by age 21.