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