USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Patau Syndrome (trisomy 13)
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- severe intellectual disability- rocker-bottom feet- holoprosencephaly- polydactyly (extra fingers and toes)- cleft lip/palate- cutis aplasia- microphthalmia (small eyes)- microcephaly- congenital heart disease- polycystic kidney disease- umbilical hernia
- Incidence 1:15,000
- ↓ β-hCG, ↓ PAPP-A in 1st trimester- Normal values in 2nd trimester
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