Inheritance Flashcards
Androgen insensitivity
X-linked recessive
Becker muscular dystrophy
X-linked recessive
Duchenne muscular dystrophy
X-linked recessive
Fabry
X-linked recessive
G6PD deficiency
X-linked recessive
Haemophilia A
X-linked recessive
Haemophilia B
X-linked recessive
Nephrogenic diabetes insipidus
X-linked recessive
Lesch-Nyhan
X-linked recessive
Alport
X-linked dominant
Rett syndrome
X-linked dominant
Sickle cell anaemia
Autosomal recessive
Congenital adrenal hyperplasia
Autosomal recessive
Friedreich’s ataxia
Autosomal recessive
Haemochromotosis
Autosomal recessive
Wilson’s
Autosomal recessive
Homocystinuria
Autosomal recessive
Tay-sachs
Autosomal recessive
Familial adenomatous polyposis
Autosomal dominant
Hereditary haemorrhagic telangiectasia
Autosomal dominant
Hereditary spherocytosis
Autosomal dominant
Huntington’s
Autosomal dominant
Marfan’s
Autosomal dominant
Myotonic dystrophy
Autosomal dominant
Tuberous sclerosis
Autosomal dominant
Osteogenesis imperfecta
Autosomal dominant
Peutz-Jeghers
Autosomal dominant
Von willebrand
Autosomal dominant
Noonan
Autosomal dominant
Down’s syndrome
T21
Edwards’s syndrome
T18
Patau syndrome
T13
Prader-Willi
Imprinting. Deletion paternal chr 15 or maternal disomy chr 15 (no paternal contribution)
Angelman
Imprinting. Deletion maternal chr 15 or paternal disomy (no maternal contribution)
