Diseases Resulting from Autosomal Chromosome Abnormalities Down syndrome most common chromosomal disorder most common cause of congenital mental retardation causes trisomy 21 login to view 4 more bullets presentation appearance login to view 4 more bullets simian crease in palm ↑ risk for congenital heart disease login to view 1 more bullet AML (< 3 y/o) ALL (> 3 y/o) Alzheimer's disease login to view 2 more bullets Hirschsprung's disease, duodenal atresia, congenital heart anamolies login to view 2 more bullets screening + quad screen login to view 5 more bullets + ultrasound shows login to view 2 more bullets can confirm diagnosis with amniocentesis or chorionic villus sampling Edwards' syndrome most common trisomy resulting in live birth after Down syndrome cause trisomy 18 login to view 1 more bullet presentation mental retardation unique appearance login to view 6 more bullets congenital heart disease login to view 1 more bullet death < 1 y/o Patau's syndrome cause trisomy 13 login to view 1 more bullet presentation mental retardation unique appearance login to view 5 more bullets VSD cystic kidneys death < 1 y/o Cri-du-chat syndrome cause microdeletion of short arm of chromosome 5 presentation high-pitched crying/mewing login to view 1 more bullet microcephaly moderate to severe mental retardation epicanthal folds VSD Williams syndrome cause microdeletion of long arm of chromosome 7 login to view 1 more bullet presentation distinctive "elfin" facies mental retardation hypercalcemia login to view 1 more bullet unique behaviors login to view 3 more bullets supravalvular aortic stenosis 22q11 microdeletions cause microdeletion at chromosome 22q11 login to view 1 more bullet variable pressenation CATCH-22 disease cleft palate abnormal facies T-cell deficiency login to view 1 more bullet cardiac abnormalities hypocalcemia login to view 2 more bullets specific presentation of 22q11 microdeletions DiGeorge syndrome login to view 4 more bullets velocardiofacial syndrome login to view 5 more bullets