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What is Trisomy 21 (Down syndrome)? Trisomy 21 is the most common chromosomal anomaly in humans, affecting about 5,000 babies born each year and more than 350,000 people in the United States. Also known as Down syndrome, trisomy 21 is a genetic condition caused by an extra chromosome.
Life expectancy for a child with Trisomy 21 (Down syndrome) has increased dramatically in the past 50 years as cardiac surgery and post-surgical care have improved. Today, clinicians have guidelines to help identify, understand and address relevant medical issues.
The Trisomy 21 Program at Children's Hospital of Philadelphia (CHOP) evaluates, treats and provides coordinated care for children and adults with trisomy 21 – also known as Down syndrome. Individuals can enter the program at birth or at any point throughout their lives.
Trisomy 21 can affect a child’s ability to solve problems, sequence tasks, and coordinate muscles in their body, which can affect how quickly they learn new skills. In the case of a dual diagnosis, children with ASD and T21 can have more difficulty learning new tasks.
22q11.2 deletion is almost as common as Trisomy 21, also known as Down syndrome, which is a more widely recognized chromosomal disorder. Children with 22q11.2 deletion and duplication syndromes often have other health problems, including: Heart defects; Feeding difficulties; Gastrointestinal problems; Immune system problems; Wounds that don’t ...
Trisomy 18 and trisomy 13 are genetic disorders that include a combination of birth defects. This includes severe intellectual disability, as well as health problems involving nearly every organ system in the body. Unfortunately, most babies born with trisomy 18 or 13 die by age 1.
Typically, 20 different cells are analyzed. If five of the 20 are normal (46 chromosomes), while the other 15 have an extra #21 chromosome (47 chromosomes), the baby would be said to have mosaic Down syndrome.
In recent years, celiac disease has been increasingly recognized, in part because of better awareness of the condition and better tests to diagnose early cases. Individuals with Down syndrome are specifically at risk, with 16 percent of people with trisomy 21 affected; that’s 20 times the risk seen in the general population. Testing
Translocation Down syndrome refers to the type of Down syndrome that is caused by rearranged chromosome material. In this case, there are three # 21 chromosomes, just like there are in trisomy 21, but one of the 21 chromosomes is attached to another chromosome, instead of being separate.
At the conclusion of this session, participants should be able to describe the neurodevelopmental and behavioral complexity of trisomy 21 with respects to the genetics, the relationship of genotype to phenotype, and diagnostic plans and treatments for associated medical, emotional and behavioral problems in these pediatric patients.