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

Documenti analoghi

• 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
  di: Chih-Ping Chen, et al.
  Pubblicazione: (2021-01-01)
• Segmental uniparental isodisomy on 5q32‐qter in a patient with childhood‐onset schizophrenia
  di: Seal, J L, et al.
  Pubblicazione: (2006)
• Familial distal trisomy 8(q24.13----qter).
  di: Romain, D R, et al.
  Pubblicazione: (1989)
• Partial trisomy 1q25----qter.
  di: Tawn, E J, et al.
  Pubblicazione: (1986)
• Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.
  di: Eggerding, F. A., et al.
  Pubblicazione: (1994)