Chromosomal Disorders

Question 1

Trisomy 21

Answer 1

Down Syndrome

Symptoms:
Hypotonia
Ear/eye dysmorphism
mouth open
big tongue
flatish face

potential complications:
cardiac isseus (50%–atrioventricular canal)
digestive issues
HENT issuses—constantly sick, ear infectionsm, etc.
Psychiatric Issues-Depression, Alzheimers, generally low functioning
Neurological Issues
increased risk of leukemia

Question 2

TRISOMY 18

Answer 2

Edwards Syndrome-
Small for gestational age, Microcephaly, small head; severe ID, Clenched hands/overlapping fingers, Rocker bottom feet, Heart/brain abnormalities
~1/8,000 live births
-Perinatal lethality, 90%

Question 3

Trisomy 13

Answer 3

Patau Syndrome.

-Severe intellectual disabilities, holoprosencephaly, facial clefts, polydactyly, and renal abnormalities.