Question: Genetics

E) All of the above
Patients with trisomy 21 are at increased risk for several medical issues that are important to consider when evaluating the patient in the emergency department. Approximately half are born with a congenital heart lesion; common ones include AV canal defect, VSD, and ASD. They are also at increased risk for congenital gastrointestinal abnormalities such as duodenal atresia or stenosis, imperforate anus, and esophageal atresia, and Hirschsprung disease and have a high risk of developing celiac disease. They are at risk to develop both hypo and hyperthyroidism, and also have a slightly higher risk of type 1 diabetes. They are at risk for both ALL, acute megakaryoblastic leukemia, and transient myeloproliferative disorder. Approximately 13% of trisomy 21 patients have asymptomatic atlantoaxial instability, and up to 2% can have symptoms of spinal cord compression as a result. Obstructive sleep apnea, urologic abnormalities such as undescended testes and renal malformations, arthropathy and relative immunodeficiency are other findings.