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.
case_report · Level V
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- Record sourced from PubMed, PMID 9279768.
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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.
Medical subject headings
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 9
- Monosomy
- Trisomy