Down Syndrome

  • DEFFINITON-A congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy trisomy 21.
  • AGE DIAGNOSIS- Birth
  • TEST USED TO DETECT- A Prenatal Testing Pamphlet can be used and they can also tell at birth but the way the baby looks.
  • LOCATED ON CHROMOSOME- Down syndrome is a chromosomal disorder that includes a combination of birth defects. Affected individuals have some degree of intellectual disability, characteristic facial features and, often, heart defect  and other health problems. The severity of these problems varies greatly among affected individuals.
  • AUTOSOMAL OR SEX-LINKED-Autosomal
  • CYMPTOMS OF DOWN SYNDROME-Decreased or poor muscle tone , Short neck, with excess skin at the back of the neck , Flattened facial profile and nose , Small head, ears, and mouth, Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye, White spots on the colored part of the eye called Brushfield spots, Wide, short hands with short fingers, A single, deep, crease across the palm of the hand, A deep groove between the first and second toes

Muscular Dystrophy

DEFFINITION-a hereditary condition marked by progressive weakening and wasting of the muscles

Comment Stream