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AD or AR? Achondroplasia Auto Dominant
AD or AR? Polycystic kidney dz AD
AD or AR? Hereditary spherocytosis AD
AD or AR? Marfan AD
AD or AR? NF I & II AD
AD or AR? Protein C deficiency AD
AD or AR? Tuberous sclerosis AD
AD or AR? Von Willebrand dz AD
AD or AR? Congenital adrenal hyperplasia AR
AD or AR? Cystic fibrosis AR
AD or AR? Galactosemia (CHO metabolism dysfn) AR
AD or AR? Gaucher dz (lysosomal storage dz) AR
AD or AR? PKU (phenylketonuria) AR
AD or AR? Ray-Sachs AR
AD or AR? Wilson dz AR
AD or AR? GSDs (glycogen storage dz: von Gierke, Pompe, McArdle) AR
Auto dominant dz: code for: structural proteins
Auto recessive dz: code for: enzymes
Teratogen exposure: before 12 wks -> organogenesis and tissue morphogenesis
Teratogen exposure: after 12 wks -> fetal growth; CNS devt
Mode of transmission: G6PD deficiency x-linked recessive
Mode of transmission: Hemophilia A & B x-linked recessive
Mode of transmission: Duchenne x-linked recessive
AD or AR? von Hippel Lindau dz AD
Autosomal Dominant Disorders Heterozygote (Aa) manifests dz (Marfan; Achondroplasia)
Autosomal Recessive Disorders Homozygote (aa) manifests dz (Hurler Syndrome, osteogenesis Imperfecta type II & III)
Gender-Linked Dominant Disorders Heterozygote (XX or XY) manifests condition (Vitamin D resistant rickets)
Gender-Linked Recessive Disorders Heterozygote male (XY) is affected; hetero female (XX) not affected (Duchenne MD; Hunter Syndrome)
Chromosomal Abnormalities Abnormality in specific region of a chromosome or an abnormal number of chromosomes (Down Syndrome & Polydactyly)
Most common chromosomal abnormality Down syndrome (1:7060 newborns). Higher incidence in infants born to moms >35 yo
Created by: Abarnard