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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Glucosephosphate Dehydrogenase
Chromosomes
Biomarkers

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Complex chromosome rearrangements. Report of a new case and literature review. / Pai, G. S.; Thomas, G. H.; Mahoney, W.; Migeon, Barbara R.

In: Clinical Genetics, Vol. 18, No. 6, 1980, p. 436-444.

Research output: Contribution to journalArticle

Pai, GS, Thomas, GH, Mahoney, W & Migeon, BR 1980, 'Complex chromosome rearrangements. Report of a new case and literature review', Clinical Genetics, vol. 18, no. 6, pp. 436-444.
Pai, G. S. ; Thomas, G. H. ; Mahoney, W. ; Migeon, Barbara R. / Complex chromosome rearrangements. Report of a new case and literature review. In: Clinical Genetics. 1980 ; Vol. 18, No. 6. pp. 436-444.
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