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

1995; Wiley; Volume: 55; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320550414

1096-8628

Patricia G. Wheeler, David D. Weaver, Catherine G. Palmer,

Genomics and Chromatin Dynamics

Abstract 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 had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39‐year‐old great‐uncle is the oldest reported individual with the Wolf‐Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized. © 1995 Wiley‐Liss, Inc.