Some Genetic Diseases

Turner Syndrome

45 X
normal intelligence
menstrual failure, low estrogen, high gonadotrophins
Short Stature


Klienfelter Syndrome

47 XXX
low intelligence, tall stature,
Normal Fertility

Down's Synd

Trisomy 21, Autosomal dominant
Meiotic non-dysjunction during osteogenesis
ASVD commonest cardiac abnormality

Edward's Syndrome

Trisomy 18, AD

Patau Syndrome

Trisomy 13