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NBME 15 Answers

nbme15/Block 4/Question#25 (3.8 difficulty score)
A couple has two children with osteogenesis ...
Germline mosaicism🔍
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Germline (AKA gonadal) mosaicism: mutation only in egg or sperm cell. Suspect if parent and relatives do not have the disease (or as seen here, if present in an irregular ratio/manner). FA2018 p 57