A Rare Chromosomal Disorder – Isochromosome 18p Syndrome

Antzeko izenburuak

• Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome – Review of 5 cases
  nork: PLAIASU, Vasilica, et al.
  Argitaratua: (2010)
• A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome
  nork: Udayakumar, Achandira M., et al.
  Argitaratua: (2013)
• Skeletal Dysplasia Presenting as a Neuromuscular Disorder – Report of a Family with Camurati-Engelmann Syndrome
  nork: PLAIASU, Vasilica, et al.
  Argitaratua: (2015)
• Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
  nork: Kumar, Jeevan M., et al.
  Argitaratua: (2011)
• The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.
  nork: Callen, D F, et al.
  Argitaratua: (1990)