A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T. Noblin, Carlos A. Bacino, Michael J. Gambello

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

We report on the clinical and cytogenetic findings in a newborn with a de novo isochromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between chromosome 18p telomere and chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isochromosome cases may be more common than appreciated.

Original languageEnglish (US)
Pages (from-to)93-98
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume133 A
Issue number1
DOIs
StatePublished - Feb 15 2005
Externally publishedYes

Keywords

  • Monosomy 18p
  • Mosaicism
  • Radial aplasia
  • Telomere-telomere translocation
  • Thrombocytopenia
  • Trisomy 18
  • Trisomy18q

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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