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Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...
Brushfield spots are a characteristic feature of the chromosomal disorder Down syndrome or trisomy 21. They occur in 35–78% of newborn infants with Down syndrome. [2] Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides.
According to the Centers for Disease Control, each year about 6,000 babies are born with Down syndrome, making it the most common chromosomal disorder. That's about 1 in every 700 newborns. That's ...
In honor of Down Syndrome Awareness Month, which happens every October, we rounded up some informative facts about the chromosomal condition.
There are three purposes of prenatal diagnosis: (1) to enable timely medical or surgical treatment of a condition before or after birth, (2) to give the parents the chance to abort a fetus with the diagnosed condition, and (3) to give parents the chance to prepare psychologically, socially, financially, and medically for a baby with a health problem or disability, or for the likelihood of a ...
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The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this number varies widely. [3] At the same time, they enjoy a rich social and emotional awareness. [4] Down syndrome is the most common chromosome abnormality in humans, [3] occurring in about one per 1000 babies born each ...