TRISOMY 21 LÀ GÌ

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Nina N. Powell-Hamilton

, MD, Sidney Kimmel Medical College at Thomas Jefferson University




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About 50% of affected neonates have congenital heart disease; ventricular septal defect Ventricular Septal Defect (VSD) A ventricular septal defect (VSD) is an opening in the interventricular septum, causing a shunt between ventricles. Large defects result in a significant left-to-right shunt and cause dyspnea... read more

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and atrioventricular canal (endocardial cushion) defect are most common.




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About 5% of affected people have gastrointestinal anomalies, particularly duodenal atresia, sometimes along with annular pancreas Annular pancreas The duodenum can be obstructed by atresia, stenosis, and pressure due to an extrinsic mass. (See also Overview of Congenital Gastrointestinal Anomalies.) This anomaly is the 2nd most common... read more

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. Hirschsprung disease Hirschsprung Disease Hirschsprung disease is a congenital anomaly of innervation of the lower intestine, usually limited to the colon, resulting in partial or total functional obstruction. Symptoms are obstipation... read more and celiac disease Celiac Disease Celiac disease is an immunologically mediated disease in genetically susceptible people caused by intolerance to gluten, resulting in mucosal inflammation and villous atrophy, which causes malabsorption... read more also are more common. Many people develop endocrinopathies, including thyroid disease (most often hypothyroidism Hypothyroidism in Infants and Children Hypothyroidism is thyroid hormone deficiency. Symptoms in infants include poor feeding and growth failure; symptoms in older children and adolescents are similar to those of adults but also... read more ) and diabetes Diabetes Mellitus (DM) Diabetes mellitus is impaired insulin secretion and variable degrees of peripheral insulin resistance leading to hyperglycemia. Early symptoms are related to hyperglycemia and include polydipsia... read more . Atlanto-occipital and atlantoaxial hypermobility, as well as bony anomalies of the cervical spine, can cause atlanto-occipital and cervical instability; weakness and paralysis may result. About 60% of people have eye problems, including congenital cataracts Congenital Cataract Congenital cataract is a lens opacity that is present at birth or shortly after birth. Diagnosis is clinical and sometimes with imaging. Treatment is surgical removal of the cataract. (See also... read more , glaucoma, strabismus Strabismus Strabismus is misalignment of the eyes, which causes deviation from the parallelism of normal gaze. Diagnosis is clinical, including observation of the corneal light reflex and use of a cover... read more
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, and refractive errors Overview of Refractive Error In the emmetropic (normally refracted) eye, entering light rays are focused on the retina by the cornea and the lens, creating a sharp image that is transmitted to the brain. The lens is elastic... read more . Most people have hearing loss, and ear infections are very common.


The aging process seems to be accelerated. In recent decades, the median life expectancy has increased to about 60 years, and some affected people live into their 80s. Comorbidities contributing to decreased life expectancy include heart disease, increased susceptibility to infections, and acute myelogenous leukemia Acute Myeloid Leukemia (AML) In acute myeloid leukemia (AML), malignant transformation and uncontrolled proliferation of an abnormally differentiated, long-lived myeloid progenitor cell results in high circulating numbers... read more . There is an increased risk of Alzheimer disease Alzheimer Disease Alzheimer disease causes progressive cognitive deterioration and is characterized by beta-amyloid deposits and neurofibrillary tangles in the cerebral cortex and subcortical gray matter. Diagnosis... read more at an early age, and at autopsy, brains of adults with Down syndrome show typical microscopic findings. The results of recent research indicate that Black people with Down syndrome have a substantially shorter life span than White people. This finding may be the result of poor access to medical, educational, and other support services.