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; E Kostyk; E Bocian; H Stańczak; J Parczewska; E Piatkowska; T Mazurczak; J J Pietrzyk

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

J Med Genet. 1997 Aug;34(8):696-9. doi: 10.1136/jmg.34.8.696.

Authors

P Stankiewicz¹, E Kostyk, E Bocian, H Stańczak, J Parczewska, E Piatkowska, T Mazurczak, J J Pietrzyk

Affiliation

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 10*
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 9*
Female
Gene Rearrangement
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Monosomy*
Pedigree
Phenotype
Trisomy*