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

(Kiana) #1
Figure I-1-6. Mendelian Genetics

X-linked dominant


These conditions may show up as two types of disorders:


Manifested  in  female  heterozygotes   as  well    as  carrier males   (hemizygotes),
e.g., hypophosphatemic rickets
Manifested in female heterozygotes but lethal in males (the increased
spontaneous abortion rate represents male fetuses), e.g., incontinentia
pigmenti, focal dermal hypoplasia, orofaciodigital syndrome
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