Biochemistry Genetics Section 10- Autosomal Trisomies

TOPICS: Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), Down syndrome (trisomy 21), intellectual disability, congenital heart disease, rocker bottom feet, cutis aplasia, micrognathia, Brushfield spots, Hirsschsprung disease, early-onset Alzheimer, epicanthal folds, flat facies, single palmar crease, duodenal atresia, nuchal translucency on ultrasound, nondisjunction, unbalanced Robertsonian translocation, microcephaly, cleft lip, polydactyly, omphalocele, holoprosencephaly, Down syndrome facial features



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