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Case Reports
. 1995 Jan;32(1):65-7.
doi: 10.1136/jmg.32.1.65.

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

W el-Rifai  1 , J Leisti, M Kähkönen, A Pietarinen, M R Altherr, S Knuutila
Affiliations
Case Reports

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

W el-Rifai et al. J Med Genet. 1995 Jan.

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).

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References

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