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  • 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.

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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.

    https://doi.org/10.1136/jmg.34.8.696

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