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

P. G. Wheeler, D. D. Weaver, C. G. Palmer

Research output: Contribution to journalArticle

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)462-465
Number of pages4
JournalAmerican journal of medical genetics
Volume55
Issue number4
DOIs
StatePublished - Mar 21 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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