Syndromes
Chromosomal anomalies
Trisomy 8


Topic Completed: 1 February 2016

Revised: 30 April 2019

Copyright: 2002-2019, PathologyOutlines.com, Inc.

PubMed Search: Trisomy 8 [title] pediatric

Related: Congenital anomalies-general, Trisomy 18, Trisomy 21

Elena Puscasiu, M.D.
Page views in 2019 to date: 28
Cite this page: Puscasiu E. Trisomy 8. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/syndromestrisomy8.html. Accessed October 22nd, 2019.
Essential features
  • Brachycephalic skull
  • Flat nasal bridge
  • Thick lips
  • Deep set eyes
  • Prominent cupped ears with thick helices
  • Cleft palate
  • Short neck
  • Absent patellae
  • Short broad fingers with camptodactyly
  • Deep palmar and plantar creases
  • Cardiac defects
Prognostic factors
  • Complete trisomy 8 is usually lethal
  • Trisomy 8 mosaicism (trisomy 8 / normal) is more common - more than 100 cases reported
Clinical images

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Trisomy 8 mosaic

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