Characteristics of Sex (X) linked recessive disorders
  • Male affected almost exclusively.
  • Transmission through carrier females.
  • Male to male transmission does not occur.
  • All daughters of affected males are carriers.
Pedigree showing X linked recessive disorders  Examples of X linked recessive disorders
  • Anhidrotic ectodermal dysplasia
  • Becker muscular dystrophy
  • Choroideraemia
  • Colour blindness
  • Duchenne muscular dystrophy
  • Emery Dreifuss muscular dystrophy
  • Fabry disease
  • Fragile X syndrome
  • G 6 P D deficiency
  • Haemophilia A, B
  • Hunter syndrome (MPS II)
  • Ihthyosis (steroid sulphatase deficiency)
  • Lesch Nyhan syndrome
  • Menkes syndrome
  • Ocular albinism
  • Ornitine transcarbamylase¬† deficiency
  • Retinitis transcarbamylase deficiency
  • Retinitis pigmentosa (Some types)
  • Testicular feminisation syndrome
Previous Post Next Post