Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.

Abstract excerpt

A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf-Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf-Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,-4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great-uncle who also...

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