Genotype vs Phenotype: When Genetics Shape Outcomes
Explore the fascinating world of genetic variations influencing physical traits in individuals. Delve into cases where the genotype alters the expected phenotype, unveiling unique medical conditions and syndromes. From liver-related anomalies to hereditary disorders, this content navigates through genetic intricacies and their tangible manifestations.
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Presentation Transcript
Non tutte gli accidenti riescono col fegato.. ..ovvero quando il genotipo ribalta il fenotipo Andrea Trombetta, Scuola Specializzazione Trieste
Pi segni.. Una malattia Paucit dotti biliari all esame istologico epatico
Giulia, 6 anni Nata a 36 SG Emocromo, AST, ALT, -gT, creatinina, colesterolo totale nella norma Pannello per RASpat e: negativo Ecografia tiroide ed eco- addome: negativo Cefalea ingravescente
Qualcosa non torna.. Stenosi polmonare Embriotoxon posteriore Facies dismorfica Genetica: Jag1 e Notch2 Delezione troncante in Delezione troncante in eterogizosi eterogizosi
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Spondylocostal dysostosis (Jarcho-Levin syndrome) Alagille Syndrome Pi segni.. Una malattia Adams Oliver Syndrome Infantile myofibromatosis and lateral meningocele syndrome (Lehman syndrome)
