Contiguous gene syndrome

In genetics, a contiguous gene syndrome is understood as a syndrome in which several neighboring genes are involved. These are small structural chromosome aberrations or gene mutations , in particular deletions and, more rarely, duplications , which are characterized by a specific complex phenotype . The DNA segment that is causally affected comprises several genes that are adjacent to one another in a chromosome region and that independently contribute to the phenotype.

Occurrence

• Alagille Syndrome
• Angelman Syndrome
• DiGeorge syndrome
• Greig type cephalosyndactyly
• Giedion-Langer Syndrome
• Kallmann syndrome
• McLeod syndrome
• 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), Verlag Walter de Gruyter , 2004, ISBN 978-3-11-018171-5 .