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

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

Research output: Contribution to journalArticle

13 Citations (Scopus)

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
StatePublished - Jan 1 1995
Externally publishedYes

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Wolf-Hirschhorn Syndrome
Cosmids
Fathers

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

El-Rifai, W., Leisti, J., Kahkonen, M., Pietarinen, A., Altherr, M. R., & Knuutila, S. (1995). A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. Journal of Medical Genetics, 32(1), 65-67.

A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. / El-Rifai, Wael; Leisti, J.; Kahkonen, M.; Pietarinen, A.; Altherr, M. R.; Knuutila, S.

In: Journal of Medical Genetics, Vol. 32, No. 1, 01.01.1995, p. 65-67.

Research output: Contribution to journalArticle

El-Rifai, W, Leisti, J, Kahkonen, M, Pietarinen, A, Altherr, MR & Knuutila, S 1995, 'A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat', Journal of Medical Genetics, vol. 32, no. 1, pp. 65-67.
El-Rifai W, Leisti J, Kahkonen M, Pietarinen A, Altherr MR, Knuutila S. A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. Journal of Medical Genetics. 1995 Jan 1;32(1):65-67.
El-Rifai, Wael ; Leisti, J. ; Kahkonen, M. ; Pietarinen, A. ; Altherr, M. R. ; Knuutila, S. / A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. In: Journal of Medical Genetics. 1995 ; Vol. 32, No. 1. pp. 65-67.
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