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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CITATION STYLE
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. https://doi.org/10.1136/jmg.32.1.65
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