Sex Chromosome Disorders Flashcards
1
Q
Turner Syndrome
A
45, xo, sex chromosome disorder prenatal cystic hygroma webbed neck puffy hands and feet heart defects like coarctation of the aorta
Short stature
normal intelligence
infertility due to non functioning ovaries
Hormone dysfunction
Distinctive traits such as low set ears broad chest
Occurs in 1/2500 newborn girls
2
Q
Kleinfelter Syndrome
A
47, XX Learning disabilities Delayed speech and language tendency towards being quiet Tall stature small testes reduced facail and body hair infertility hypospadias gynecomastia Occurs in 1/500 -1/1000 newborn boys
3
Q
Jacobs Syndrome
A
47, XYY Learning disability speech delyas Developmental delays Behavioral and emotional difficulties autism spectrum disorders Tall stature Occurs 1/1000 newborn boys
4
Q
Triple X Syndrome
A
47 XXX tall stature maybe learning disability delayed speech delayed motor milestones seizures kidney abnormalities 1/1000 babies
