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

Olaya Villa, Miguel Del Campo, Marta Salido, Blanca Gener, Laura Astier, Jesús Del Valle, Fátima Gallastegui, Luis Perez-Jurado, Francesc Solé

Research output: Contribution to journalArticle

11 Citations (Scopus)

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 ∼16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.

Original languageEnglish
Pages (from-to)1108-1113
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number10
DOIs
Publication statusPublished - 15 May 2007
Externally publishedYes

Keywords

  • CGH
  • Chromosome 6p
  • Craniosynostosis
  • Developmental delay
  • FISH
  • SKY-FISH
  • Small supernumerary marker chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Villa, O., Del Campo, M., Salido, M., Gener, B., Astier, L., Del Valle, J., ... Solé, F. (2007). Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis. American Journal of Medical Genetics, Part A, 143(10), 1108-1113. https://doi.org/10.1002/ajmg.a.31709