Effects of aneuploidy on skull growth in a mouse model of Down syndrome

Cheryl A. Hill, Roger H. Reeves, Joan T. Richtsmeier

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Adult craniofacial morphology results from complex interactions among genetic, epigenetic and environmental factors. Trisomy causes perturbations in the genetic programmes that control development and these are reflected in morphology that can either ameliorate or worsen with time and growth. Many of the specific changes that occur in Down syndrome can be studied in the Ts65Dn trisomic mouse, which shows direct parallels with specific aspects of adult craniofacial dysmorphology associated with trisomy 21. This study investigates patterns of craniofacial growth in Ts65Dn mice and their euploid littermates to assess how the adult dysmorphology develops. Three-dimensional coordinate data were collected from microcomputed tomography scans of the face, cranial base, palate and mandible of newborn (P0) and adult trisomic and euploid mice. Growth patterns were analysed using Euclidean distance matrix analysis. P0 trisomic mice show significant differences in craniofacial shape. Growth is reduced along the rostro-caudal axis of the Ts65Dn face and palate relative to euploid littermates and Ts65Dn mandibles demonstrate reduced growth local to the mandibular processes. Thus, the features of Down syndrome that are reflected in the mature Ts65Dn skull are established early in development and growth does not appear to ameliorate them. Differences in growth may in fact contribute to many of the morphological differences that are evident at birth in trisomic mice and humans.

Original languageEnglish (US)
Pages (from-to)394-405
Number of pages12
JournalJournal of Anatomy
Issue number4
StatePublished - Apr 2007

All Science Journal Classification (ASJC) codes

  • Anatomy
  • Ecology, Evolution, Behavior and Systematics
  • Histology
  • Molecular Biology
  • Developmental Biology
  • Cell Biology


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