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People with Down syndrome experience a wide range of emotions. [51] While people with Down syndrome are generally happy, [52] symptoms of depression and anxiety may develop in early adulthood. [9] Children and adults with Down syndrome are at increased risk of epileptic seizures, which occur in 5–10% of children and up to 50% of adults. [9]
Genetics of Down syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
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 ...
Global developmental delay. Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development. [1]
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
Medical genetics. Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). [1][2] This deletion either happens de novo or as a result of a parent having the chromosome abnormality. [3]
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A mother shares her story about being diagnosed with mosaic Down syndrome. ... One year later, their daughter Evelyn, now 15 months, was born, and though Evelyn also went through genetic testing ...