Paediatrics: Patau Syndrome: Free MSRA Podcast

🧬 FREE MSRA PODCAST – Patau Syndrome (Trisomy 13): Genetics, Features & PrognosisA concise, high-yield review of Patau syndrome (Trisomy 13)—from genetic cause to clinical features, diagnosis, and prognosis. Ideal for MSRA revision or quick clinical reference.🧠 Key Learning Points📌 Definition• Patau syndrome (Trisomy 13) is a severe genetic disorder caused by an extra copy of chromosome 13, leading to multiple congenital malformations and significant intellectual disability.📌 Causes & Risk Factors• Most commonly due to nondisjunction during gamete formation—leads to three copies of chromosome 13 in each cell• Can also be caused by Robertsonian translocation or mosaicism• Risk increases with advanced maternal age, prior child with trisomy, or parental balanced translocation📌 Pathophysiology• Overexpression of genes on chromosome 13 disrupts embryonic development → widespread structural and functional abnormalities📌 Symptoms & Clinical Features• Classic features: – Severe intellectual disability – Cleft lip/palate – Polydactyly (“Patau has plenty of digits” mnemonic) – Microcephaly – Holoprosencephaly – Congenital heart defects – Scalp defects (cutis aplasia) – Ear malformations – Rocker-bottom feet – Genitourinary & gastrointestinal anomalies – Small, hyperconvex nails📌 Diagnosis• Definitive: Genetic testing (karyotyping, microarray)• Prenatal screening: Ultrasound, combined first-trimester screening, NIPT• Parental karyotype if translocation suspected• Genetic counselling is crucial📌 Management• Multidisciplinary, mainly supportive and palliative• Focus on comfort, feeding support, symptom management• Surgery only for selected life-threatening anomalies• Parental wishes and quality of life central to all decisions📌 Prognosis & Complications• Very poor prognosis: Median survival ~2–3 days; >90% do not survive beyond first year• Survivors have profound developmental delay, high risk of seizures, feeding and respiratory difficulties• Complications arise from underlying cardiac, neurological, respiratory, and GI malformations📎 More MSRA Resources for Patau Syndrome📝 Revision Notes: https://www.passthemsra.com/topic/patau-syndrome-trisomy-13-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/patau-syndrome-trisomy-13-flashcards/💬 Accordion Q&A Notes: https://www.passthemsra.com/topic/patau-syndrome-trisomy-13-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/patau-syndrome-trisomy-13-rapid-quiz/🎯 Practice Quiz: https://www.passthemsra.com/quizzes/patau-syndrome-trisomy-13/🎓 Paediatrics Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQandANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #Paediatrics #PatauSyndrome