You are here

  • Home
  • Archive
  • Volume 34, Issue 8
  • Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.

Article Text

Article menu
Download PDFPDF
Research Article
Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
  1. P Stankiewicz,
  2. E Kostyk,
  3. E Bocian,
  4. H Stańczak,
  5. J Parczewska,
  6. E Piatkowska,
  7. T Mazurczak,
  8. J J Pietrzyk
  1. Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland.

    Abstract

    A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as well as karyotype-phenotype correlation are discussed.

    http://dx.doi.org/10.1136/jmg.34.8.696

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.