Maternal uniparental isodisomy 11q13→qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13→qter

Gelijkaardige items

• Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism
  door: Chih-Ping Chen, et al.
  Gepubliceerd in: (2021-01-01)
• Segmental uniparental isodisomy on 5q32‐qter in a patient with childhood‐onset schizophrenia
  door: Seal, J L, et al.
  Gepubliceerd in: (2006)
• Familial distal trisomy 8(q24.13----qter).
  door: Romain, D R, et al.
  Gepubliceerd in: (1989)
• Partial trisomy 1q25----qter.
  door: Tawn, E J, et al.
  Gepubliceerd in: (1986)
• Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.
  door: Eggerding, F. A., et al.
  Gepubliceerd in: (1994)