Complex chromosome rearrangements. Report of a new case and literature review

G. S. Pai, G. H. Thomas, W. Mahoney, Barbara R Migeon

Research output: Contribution to journalArticle

Abstract

A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.

Original languageEnglish (US)
Pages (from-to)436-444
Number of pages9
JournalClinical Genetics
Volume18
Issue number6
StatePublished - 1980
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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