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. 1997 Aug;34(8):696–699. doi: 10.1136/jmg.34.8.696

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.

P Stankiewicz 1, E Kostyk 1, E Bocian 1, H Stańczak 1, J Parczewska 1, E Piatkowska 1, T Mazurczak 1, J J Pietrzyk 1
PMCID: PMC1051038  PMID: 9279768

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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