Failure of X inactivation in the autosomal segment of an X/A translocation

C. G. Palmer, T. W. Hubbard, G. W. Henry, D. D. Weaver

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

A newborn with an X/A translocation (46,X,der X,t(X;17)(17pter→17p13::Xp22→Xqter) demonstrated multiple anomalies. X-replication studies in leukocytes of the patient with RBG (R Bands by BrdU using Giemsa stain) showed the abnormal X,t(X;17) to be late replicating except for the translocated segment. Clinical findings and replication studies suggest failure of inactivation of the translocated segment.

Original languageEnglish (US)
Pages (from-to)179-187
Number of pages9
JournalAmerican Journal of Human Genetics
Volume32
Issue number2
StatePublished - Jan 1 1980

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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