Common Genetic Disorders Flashcards
(24 cards)
Nervous System ; Autosomal Dominant
Huntington’s
Neurofibromatosis
Mytonic dystrophy
Tuberous sclerosis
Urinary; Autosomal Dominant
Polycystic kidney disease
Gastrointestinal ; Autosomal Dominant
Familial polyposis coli
Hematopoietic ; Autosomal Dominant
Hereditary spherocytosis
von Willebrand disease
Skeletal ; Autosomal Dominant
Marfan
Ehlers-Danlos
Osteogenesis imperfecta
Achondroplasia
Metabolic ; Autosomal Dominant
Familial hypercholesterolemia
Acute intermittent porphyria
Metabolic ; Autosomal Recessive
Cystic fibrosis Phenylketonuria Galactosemia Homocystinuria Lysosomal storage disease a1-Antitrypsin deficiency Wilson's disease Hemochromatosis Glycogen storage disease
Hematopoietic ; Autosomal Recessive
Sickle cell anemia
Thalassemias
Endocrine ; Autosomal Recessive
Congenital adrenal hyperplasia
Skeletal ; Autosomal Recessive
Ehlers-Danlos
Alkaptonuria
Nervous ; Autosomal Recessive
Neurogenic muscular atrophies
Friedreich ataxia
Spinal muscular dystrophy
Musculoskeletal ; X-Linked Recessive
Duchenne muscular dystrophy
Blood ; X-Linked Recessive
Hemophilia A & B
Chronic granulomatous disease
Glucose-6-phosphate dehyrogrenase deficiency
Immune ; X-Linked Recessive
Agammaglobulinemia
Wiskott-Aldrich syndrome
Metabolic ; X-Linked Recessive
Diabetes insipidus
Lesch-Nyhan
Nervous ; X-Linked Recessive
Fragile X
Sex linked Dominant
Rickets, Vit D resistant
Trinucleotide Repeat Mutations
Fragile X Huntington Myotonic dystrophy Friedrich ataxia Spinocerebellar ataxia
Genomic Imprinting
Chromosome 15 inactivation
Angelman syndrome (maternal)
Prader-Willi syndrome (paternal)
Mitochondrial DNA mutations
Leber’s Hereditary Optic Neuropathy (LHON)
Gonadal Mosaicism
Down syndrome
Chromosomal Abnormalities
Abnormal Ploidy
Down Syndrome (Trisomy 21)
Klinefelter’s Syndrome (47XXY)
Turner’s Syndrome (45X)
Abnormal structures
leukemias
lymphomas
Abnormal Structure: Translocation; Balanced
Acute myeloid leukemia (Philadelphia chromosome [9&22])
