W. Elrifai et al., A PATIENT WITH WOLF-HIRSCHHORN-SYNDROME ORIGINATING FROM TRANSLOCATION-T(4-8)(P16.3-Q24.3)PAT, Journal of Medical Genetics, 32(1), 1995, pp. 65-67
We present here a 7 year old girl with the clinical signs of Wolf-Hirs
chhorn syndrome (WHS). Only on high resolution banding was a deletion
of 4p16.3 suspected in both the proband and the father. Further studie
s using simultaneous R banding and FISH, with cosmid probe pc847.351 c
ontaining the mildly repetitive fragment 847EC, confirmed the diagnosi
s and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).