Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

Am J Med Genet A. 2007 May 15;143A(10):1108-13. doi: 10.1002/ajmg.a.31709.

Abstract

We report on a child with a small supernumerary marker chromosome (sSMC) causing partial trisomy 6p. The child showed a phenotype consisting of neonatal craniosynostosis, microcephaly, and borderline developmental delay. By molecular techniques the sSMC has been shown to contain approximately 16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 6*
  • Craniosynostoses / genetics*
  • DNA Mutational Analysis
  • Genetic Markers*
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Pedigree
  • Trisomy / genetics*

Substances

  • Genetic Markers