USMLE Step 2 CK Lecture Notes 2019: Obstetrics/Gynecology (Kaplan Test Prep)

(Kiana) #1

Autosomal recessive examples include the following:


Deafness Albinism Phenylketonuria
Congenital adrenal hyperplasia Sickle cell anemia Cystic fibrosis
Thalassemia Tay-Sachs disease Wilson disease

X-linked recessive


These conditions are functionally dominant in men, but may be dominant or
recessive in women. There is no male-to-male transmission (because the father
gives only his Y chromosome to his son), but transmission is 100% male to
female. The usual transmission is from heterozygous females to male offspring
in an autosomally dominant pattern.


If  one parent  is  homozygous  and one is  heterozygous,   50% of  offspring   will
be affected, and 50% will be carriers.
If both parents are homozygous, 100% of children will be affected.
Carrier states are common.
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