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.
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.
Stankiewicz
P
P
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland.
Kostyk
E
E
Bocian
E
E
Stańczak
H
H
Parczewska
J
J
Piatkowska
E
E
Mazurczak
T
T
Pietrzyk
J J
JJ
D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D002899:Chromosomes, Human, Pair 9; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy