Genetic basis and clinical presentation of Prader-Willi syndrome, Edwards syndrome, and Patau syndrome
Genetic basis of Patau syndrome (Trisomy 13)
Patau syndrome, or Trisomy 13, is a severe genetic disorder caused by an extra chromosome 13, leading to significant congenital abnormalities and a poor prognosis.
Genetic Basis and Clinical Presentation of Patau Syndrome (Trisomy 13)
Introduction
Patau syndrome, also known as Trisomy 13, is a severe genetic disorder caused by the presence of an extra chromosome 13. This condition leads to multiple congenital anomalies, often incompatible with long-term survival.
Genetic Basis
Trisomy 13 occurs due to nondisjunction during cell division, leading to an extra chromosome 13 in each cell. In some cases, it results from Robertsonian translocation or mosaicism.
Clinical Presentation
- Facial abnormalities (cleft lip/palate, microphthalmia)
- Holoprosencephaly (failure of brain division)
- Polydactyly (extra fingers or toes)
- Congenital heart defects (ventricular septal defect, atrial septal defect)
- Severe intellectual disability
Diagnosis and Prognosis
Patau syndrome is diagnosed prenatally through genetic testing, such as amniocentesis or chorionic villus sampling. Prognosis is poor, with many affected infants not surviving beyond the first year.
Conclusion
Understanding the genetic causes and clinical manifestations of Patau syndrome aids in early diagnosis and management. While survival is limited, medical interventions and supportive care can help improve quality of life for affected individuals.
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