Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (Macaca fascicularis)

Charleen M. Moore, Edward J. Dick, Gene B. Hubbard, Stephanie M. Gardner, Betty G. Dunn, Arthur R. Brothman, Vick Williams, Suresh I. Prajapati, Charles Keller, Michael D. Davis

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Nonhuman primates have been a common animal model to evaluate experimentally induced malformations. Reports on spontaneous malformations are important in determining the background incidence of congenital anomalies in specific species and in evaluating experimental results. Here we report on a stillborn cynomolgus monkey (Macaca fascicularis) with multiple congenital anomalies from the colony maintained at the Southwest National Primate Research Center at the Texas Biomedical Research Institute, San Antonio, Texas. Physical findings included low birth weight, craniorachischisis, facial abnormalities, omphalocele, malrotation of the gut with areas of atresia and intussusception, a Meckel diverticulum, arthrogryposis, patent ductus arteriosus, and patent foramen ovale. The macaque had normal male external genitalia, but undescended testes. Gestational age was unknown but was estimated from measurements of the limbs and other developmental criteria. Although cytogenetic analysis was not possible due to the tissues being in an advanced state of decomposition, array Comparative Genomic Hybridization analysis using human bacterial artificial chromosome clones was successful in effectively eliminating aneuploidy or any copy number changes greater than approximately 3-5Mb as a cause of the malformations. Further evaluation of the animal included extensive imaging of the skeletal and neural tissue defects. The animal's congenital anomalies are discussed in relation to the current hypotheses attempting to explain the frequent association of neural tube defects with other abnormalities.

Original languageEnglish (US)
Pages (from-to)1367-1373
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number6
DOIs
Publication statusPublished - Jun 2011
Externally publishedYes

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Keywords

  • Congenital defects
  • Cynomolgus monkey
  • Macaque
  • Malformations
  • Neural tube defects
  • Non-human primate
  • Schisis association

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Moore, C. M., Dick, E. J., Hubbard, G. B., Gardner, S. M., Dunn, B. G., Brothman, A. R., ... Davis, M. D. (2011). Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (Macaca fascicularis). American Journal of Medical Genetics, Part A, 155(6), 1367-1373. https://doi.org/10.1002/ajmg.a.33627