Isochromosome 18p in a mother and her child

D. Abeliovich, J. Dagan, A. Levy, A. Steinberg, J. Zlotogora

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

Abstract

We present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case of mosaicism i(18p) in an adult patient with clinical manifestations.

Original languageEnglish
Pages (from-to)392-393
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume46
Issue number4
DOIs
StatePublished - 1 Jun 1993
Externally publishedYes

Keywords

  • isochromosome 18p
  • mosaicism
  • tetrasomy 18p

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