A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

Eitemau Tebyg

• A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability
  gan: Almira Zada, et al.
  Cyhoeddwyd: (2014-01-01)
• Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
  gan: Ogata, Tsutomu, et al.
  Cyhoeddwyd: (2016)
• Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
  gan: van der Werf, Ilse M, et al.
  Cyhoeddwyd: (2016)
• Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14
  gan: Irving, Melita D., et al.
  Cyhoeddwyd: (2010)
• De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus
  gan: Tan, Ene-Choo, et al.
  Cyhoeddwyd: (2013)