Genetic and Pediatric Disease Flashcards
1
Q
Facts
A
~1% of all newborns possess a gross chromosomal abnormality
~1/3 of all pregnancies end in miscarriage
~5% of individuals <25 years old will develop a serious disease with a significant genetic component
2
Q
Down Syndrome
A
1 in every 800 births in the USA Often associated with congenital heart defects Ocular Sx: - Epicanthal folds - Oblique palpebral fissures - Cataracts - Strabismus
3
Q
Marfan Syndrome
A
Dominant Allele Tall with long extremities Scoliosis Depressed sternum Respiratory defects Mitral valve prolapse Aortic deformities Ocular Sx: - Lens sublaxation - Iris hypoplasia - Ptosis - Strabismus
4
Q
Turner’s Syndrome
A
One X chromosome Amenorrhea Incomplete secondary sexual characteristics Webbing of neck Ocular Sx: - Prominent epicanthal folds - Blue sclera - Ptosis - Strabismus - Cataracts
5
Q
Klinefelter’s Syndrome
A
Two X chromosomes + One Y chromosome (XXY)
Elongated body frame
Atrophic testes and small penis
Incomplete secondary sexual characteristics
Low IQ
