Blue Prints 3

Question 1

What is the inheritance of CF?

Almost all patients have what condition?

Answer 1

AR

Chronic lung dx

Question 2

What is the inheritance of sickle cell?
What is actually mutated?
Two complications?

Answer 2

AR
Beta chain of HgB
Hemolytic anemia and painful vaso occlusive crisis

Question 3

What is the deficiency in Tay Sachs?
Inheritance of tay Sachs?
What is accumulated?
What patient population?
3 complications/symptoms?

Answer 3

Hex A
AR 
gangliosides
Ashkenazi Jews
Developmental delay, neuro degeneration, and cherry red spot

Question 4

What are the three most common forms of hemoglobin?

Answer 4

Fetal, a2gamma2
Adult, A, A2B2
Adult, A2, A2Delta2

Question 5

When are the beta thalasesemias diagnosed and two patient populations more susceptible?
What will be increased in beta ones?

Answer 5

A few months after birth, maybe 6, because the fetal hemoglobin is still taking care of things.
Mediterranean and African Americans
A2Delta2

Question 6

What patient population is affected more commonly by cis and trans alpha thalassemia?

Answer 6

Cis is Asian and trans is African

Question 7

3 signs of trisomy 21?
3 signs of trisomy 18?
3 signs of trisomy 13?

Answer 7

Cardiac defects, dual dental atresia and short limbs
Clenched fists, overlapping digits, and rocker bottom feet
Holoprosencepahly, cleft lip,

Question 8

What is potter syndrome? 4 big things

Answer 8

Renal failure, anhydramnios, pulmonary hypoplasia, limb deformation,

Question 9

What is an excellent way to screen for Down syndrome during first trimester?

Answer 9

Nuchal translucency