Contiguous gene syndrome

Under a Contiguous gene syndrome refers to a syndrome in genetics, at whose expression several adjacent genes are involved. It is small structural chromosome aberrations or gene mutations, in particular deletions and more rarely duplications, which are characterized by a specific complex phenotype. The causative affected DNA segment comprises a plurality of contiguous in a chromosomal region genes that contribute independently to the phenotype.

Occurrence

  • Alagille syndrome
  • Angelman syndrome
  • DiGeorge syndrome
  • Cephalosyndaktylie type Greig
  • Miller - Dieker syndrome
  • Prader -Willi syndrome
  • Retinoblastoma
  • Rubinstein - Taybi syndrome
  • Smith - Magenis syndrome
  • WAGR syndrome
  • Williams -Beuren syndrome
  • X -linked ichthyosis

Swell

  • Pschyrembel Clinical Dictionary ( 260th edition), Walter de Gruyter, 2004, ISBN 978-3-11-018171-5.
  • Genetic disorder
Deletion (genetics) Miller–Dieker syndrome Prader–Willi syndrome Smith–Magenis syndrome
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