Patau Syndrome — Main Presentation Topics Introduction Definition Also called Trisomy 13 Epidemiology Incidence Risk factors Etiology / Causes Meiotic nondisjunction Robertsonian translocation Mosaicism Genetic Basis Normal chromosome 13 vs. trisomy 13 Simple karyotype/diagram Types Full trisomy 13 Mosaic trisomy 13 Translocation trisomy 13 Clinical Features ⭐ Polydactyly Cleft lip/palate Microcephaly Eye abnormalities Congenital heart defects Brain abnormalities Kidney abnormalities System-wise Manifestations CNS Face and eyes Cardiovascular system Renal system Limbs Diagnosis Prenatal screening Ultrasound CVS/amniocentesis Karyotyping Genetic testing Management Supportive treatment Management of cardiac, feeding, respiratory and neurological problems Surgical correction when appropriate Prognosis Survival Developmental outcome Factors affecting prognosis Genetic Counseling & Prevention Recurrence risk Importance of parental karyotyping in translocation cases Prenatal counseling Conclusion / Key Points Patau syndrome = Trisomy 13 Classic triad/features Diagnosis Management
Patau Syndrome — Main Presentation Topics
Introduction
Definition
Also called Trisomy 13
Epidemiology
Incidence
Risk factors
Etiology / Causes
Meiotic nondisjunction
Robertsonian translocation
Mosaicism
Genetic Basis
Normal chromosome 13 vs. trisomy 13
Simple karyotype/diagram
Types
Full trisomy 13
Mosaic trisomy 13
Translocation trisomy 13
Clinical Features ⭐
Polydactyly
Cleft lip/palate
Microcephaly
Eye abnormalities
Congenital heart defects
Brain abnormalities
Kidney abnormalities
System-wise Manifestations
CNS
Face and eyes
Cardiovascular system
Renal system
Limbs
Diagnosis
Prenatal screening
Ultrasound
CVS/amniocentesis
Karyotyping
Genetic testing
Management
Supportive treatment
Management of cardiac, feeding, respiratory and neurological problems
Surgical correction when appropriate
Prognosis
Survival
Developmental outcome
Factors affecting prognosis
Genetic Counseling & Prevention
Recurrence risk
Importance of parental karyotyping in translocation cases
Prenatal counseling
Conclusion / Key Points
Patau syndrome = Trisomy 13
Classic triad/features
Diagnosis
Management
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This guide covers Patau syndrome (Trisomy 13), detailing its definition, incidence, and risk factors, including mechanisms like nondisjunction and translocation. It emphasizes the importance of recognizing and confirming the syndrome through karyotype comparisons and identifying key features. Additionally, it addresses management strategies, including supportive care, prognosis assessment, and counseling on recurrence risks and parental karyotyping.