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81 Cards in this Set
- Front
- Back
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Familial dilipidemia type IIa- familial hypercholesterolemia
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autosomal dominant
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Achondroplasia
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autosomal dominant
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familial adenomatous polyposis (FAP)
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autosomal dominant
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hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
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autosomal dominant
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hereditary spherocytosis
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autosomal dominant
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huntington's disease
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autosomal dominant
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marfan's syndrome
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autosomal dominant (locus heterogeneity)
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multiple endocrine neoplasias (MEN)
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autosomal dominant
2B (locus heterogeneity) |
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Neurofibromatosis type 1 (von Recklinghausen's disease)
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autosomal dominant
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Neurofibromatosis type 2
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autosomal dominant
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tuberous sclerosis
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autosomal dominant (Incomplete penetrance)
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von Hippel Lindau disease
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autosomal dominant
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factor V leiden
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autosomal dominant (incomplete dominance)
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pyruvate kinase deficiency
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autosomal recessive
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sickle cell anemia
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autosomal recessive
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abetalipoproteinemia
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autosomal recessive
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Hurler's syndrome
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autosomal recessive
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gaucher's disease
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autosomal recessive
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Niemann-Pick disease
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autosomal recessive
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Tay-Sach's disease
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autosomal recessive
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Krabbe's disease
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autosomal recessive
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metachromatic leukodystrophy
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autosomal recessive
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hartnup disease
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autosomal recessive
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homocystinuria
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autosomal recessive (locus heterogeneity)
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maple syrup urine disease
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autosomal recessive
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phenylketonuria (PKU)
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autosomal recessive (Pleiotrophy)
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xeroderma pigmentosa
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autosomal recessive
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ataxia telangiectasia
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autosomal recessive
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cystic fibrosis
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autosomal recessive
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glycogen storage diseases
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autosomal recessive
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mucopolysaccharidoses (except Hunter's)
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AR
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thalassemia
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autosomal recessive
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chediak higashi syndrome
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autosomal recessive
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α-1 antitrypsin
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autosomal recessive
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albinism
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autosomal recessive (locus heterogeneity)
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G6PD deficiency
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X-linked recessive
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hemophilia A & B
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x-linked recessive
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fabry's disease
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X-linked recessive
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ocular albinism
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x-linked recessive
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duchenne's muscular dystrophy
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x-linked recessive
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becker's muscular dystrophy
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x-linked recessive
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fragile x-syndrome
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x-linked recessive
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bruton's aggamaglobulinemia
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x-linked recessive
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wiskott-aldrich syndrome
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x-linked recessive
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lesch-nyhan syndrome
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x-linked recessive
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chronic granulomatous disease
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x-linked recessive
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Retinoblastoma
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Loss of heterogenicity
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ARPKD
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autosomal recessive
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Hemachromatosis
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autosomal recessive
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ADPKD
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autosomal dominant
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Ornithine transcarbamoylase deficiency
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X-linked recessive
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Chromosome 15
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Prader-Willi
Angelman's |
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CFTR gene on chromosome 7
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Cystic fibrosis
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(15,17) translocation and the retinoic acid receptor
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APML
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Spermatid
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N
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Spermatocytes
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4N
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Spermatogonia
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2N
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GTP binding protein
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Ras
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22q11
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Velocardiofacial
Digeorge's |
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Microdeletion of long arm of chromosome 7
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Williams syndrome
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FGF3 defect
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Achondroplasia
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Huntington's repeat
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CAG
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Myotonic dystrophy repeat
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CTG
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Friedreich's ataxia repeat
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GAA
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Fragile X repeat
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CGG
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Chromasome 17
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Neurofibromatosis
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APC defect on chromosome 5
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Familial adenomatous polyposis
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Chromosome 3
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Von Hippel-Lindau
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Mutation of NF2 on chromosome 22
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Neurofibromatosis 2
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Leber's heredity opic neuropathy
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mitochonrial
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Osteogenesis imperfecta
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autosomal dominant (null allele effect)
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(14,18) translocation and overexpression of Bcl-2
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Follicular lymphoma
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(8,14) translocation and overexpression of c-myc
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Burkitt's lymphoma
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(9,22) translocation and constitutive activity of tyrosine kinase (bcr-abl)
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CML
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(11,14) translocation and overexpression of cyclin D
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Mantle cell lymphoma
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(11,22) translocation
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Ewing sarcoma
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Chromosome 4
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Huntington disease
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Short harm of chromosome 5
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Cri-du-chat
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Muation of PKD1 on chromosome 16
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ADPKD
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What diseases are related to chromosome 5
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FAP and Cri-Du-Chat
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Friedreich's ataxia
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AR
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