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Last Update: 10/04/2024 02:45 PM

Current Deck: Genes and Development::Week 1::LE010 Genetic Conditions Frequently Encountered in Children

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Trisomy 13 (Patau Syndrome):Incidence ~ {{c1::1/5,000-1/10,000 births }}DiagnosisKaryotyping - {{c1::47,XX,+13, 47,XY,+13}}FISH for {{c1::quick turn around}}Prenatally: {{c1::by karyotyping, CMA or noninvasive prenatal screening (NIPS) of cell-free fetal DNA in maternal plasma}}Pathogenesis: {{c1::meiotic nondisjunction (older maternal age)}}Translocation cases: need to {{c1::check parents for balanced translocations }}

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LE010_Genetic_Conditions_Frequently_Encountered_in_Children

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