Genetic disorders Flashcards
1
Q
Trisomy 21
A
Down syndrome
2
Q
PE findings of trisomy 21
A
Microcephaly Flattened nose Wide set etes Protruding tongue Upward slanting eyes Hypotonia
3
Q
XXY Syndrome
A
Klinefelter’s syndrome
Extra X chromosome(more femaleness) Only in MEN
Appears normal at birth–comes out at puberty
4
Q
XO karyotype
A
Turner’s syndrome
Most common sex-chromosome anomaly in females
Biscupid aortic valve, coarctation of the aorta–most common
5
Q
Marfan syndrome
A
Inherited connective tissue d/o affecting skeletal, cardia and ophthalmic body systems
Cardiac= aortic regurgitation and mitral valve prolapse
