A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat

W. El-Rifai, J. Leisti, M. Kahkonen, A. Pietarinen, M. R. Altherr, S. Knuutila

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847-EC, confirmed the diagnosis and showed a paternal balanced translocation t(4;8) (p16.3;q24.3).

Original languageEnglish (US)
Pages (from-to)65-67
Number of pages3
JournalJournal of medical genetics
Volume32
Issue number1
DOIs
StatePublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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