De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

Anne Chun Hui Tsai, Catherine A. Fine, Michael Yang, Carol S. Walton, Linda Beischel, John P. Johnson

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations

Abstract

We describe a 12-year-old patient, the second live born prenatally ascertained patient in the literature, with a de novo isodicentric X chromosome, karyotype 46,X,idic(X)(q24), with normal growth and development and lack of dysmorphic features. Molecular and cytogenetic studies were performed to further characterize the isodicentric chromosome X behavior. Literature on isodicentric X chromosomes with various breakpoints on Xq is reviewed and summarized.

Original languageEnglish (US)
Pages (from-to)923-930
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume140 A
Issue number8
DOIs
StatePublished - Apr 15 2006

Keywords

  • Breakpoint on Xq
  • Isodicentric X chromosome
  • idic(X)(q24)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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