Molecular cytogenetic identification of four X chromosome duplications

Aiwu Zhang, David D. Weaver, Catherine G. Palmer

Research output: Contribution to journalArticle

30 Scopus citations

Abstract

Four cases with previously unidentified X-chromosome abnormalities were studied by standard cytogenetic techniques and FISH in order to demonstrate the origin of the extra segment on the abnormal X chromosomes. All cases were identified as X-chromosome duplications by using a chromosome-specific painting probe. Application of appropriate locus-specific DNA probes as an adjunct to GTG- and RBG-banding proved useful in defining the breakpoints and the extent of the duplications. Although the duplicated X chromosome in female cases was selectively inactivated, as demonstrated by its late- replicating pattern, abnormal clinical findings were manifested in 3 female patients.

Original languageEnglish (US)
Pages (from-to)29-38
Number of pages10
JournalAmerican journal of medical genetics
Volume68
Issue number1
DOIs
StatePublished - Jan 10 1997

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Keywords

  • duplications
  • X chromosome
  • X-FISH

ASJC Scopus subject areas

  • Genetics(clinical)

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