Clinical genetics - examples Flashcards
Tuberous Sclerosis
Autosomal dominant
Polycystic kidney disease
Autosomal dominant
Wilson’s disease
Autosomal recessive
von Willebrand’s disease
Autosomal dominant
Vitamin D resistance rickets
X-linked dominant
Neurofibromatosis T1/T2
Autosomal dominant
Christmas disease (factor IX deficiency)/Hamophilia B or Haemophilia A
X-linked recessive
Marfan’s syndrome
Autosomal dominant
Myotonic dystrophy
Autosomal dominant
Leigh’s syndrome
Mitochondrial
Agammaglobulinaemia
X-linked recessive
Phenylketonria
Autosomal recessive
Red-green colour blindness
X-linked recessive
Thalassaemia
Autosomal recessive
Familial polyposis coli
Autosomal dominant
Congenital adrenal hyperplasia
Autosomal recessive
Sickle cell disease
Autosomal recessive
Achondroplasia
Autosomal dominant
Glycogen storage disorders
Autosomal recessive
Incontinentia pigmenti
X-linked dominant
Lever’s hereditary optic neuropathy
Mitochondrial
Porphyria
Autosomal dominant
Wiskott-Aldrich syndrome
X-linked recessive
Rett syndrome
X-linked dominant
Osteogenesis imperfecta
Autosomal dominant
Lesch-Nyhan syndrome
X-linked recessive
Huntington’s chorea
Autosomal dominant
Cystic fibrosis
Autosomal recessive
Fragile X syndrome
X-linked recessive
G6PD deficiency
X-linked recessive
Duchenne muscular deficiency
X-linked recessive
Neurogenic diabetes insipidus
X-linked recessive
