Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

C. S. Reid, L. E. McMorrow, D. M. McDonald-McGinn, K. J. Grace, F. J. Ramos, E. H. Zackai, M. M. Cohen, E. W. Jabs

Research output: Contribution to journalArticlepeer-review

Abstract

Chromosome analysis of a male infant and his mother with Saethre-Chotzen syndrome demonstrated an apparently balanced translocation, t(2;7)(p23;p22). This association lends support to localization of the gene for Saethre- Chotzen syndrome to the 7p2 region and supports further involvement of gene(s) in the 7p22 region.

Original languageEnglish (US)
Pages (from-to)637-639
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume47
Issue number5
StatePublished - 1993
Externally publishedYes

Keywords

  • balanced translocation
  • chromosome 2
  • chromosome 7
  • craniosynostosis
  • gene mapping

ASJC Scopus subject areas

  • Genetics(clinical)

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