Review Note

Last Update: 10/07/2024 10:16 PM

Current Deck: Genes and Development::Week 2::IS007 Genetics Case-Based Discussion #1

Published

Cri du Chat genetic etiology

AKA "{{c1::5P del}} syndrome" because shortened {{c2::p arm of chr5}}
85% cases are {{c3::sporadic de novo deletions}}
15% cases from {{c4::unequal segregation of parental translocation}}, increased risk from parents with {{c5::balanced translocation}}

Genes_and_Development IS007_Genetics_Case_1

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