RT Journal Article
SR Electronic
T1 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.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 696
OP 699
DO 10.1136/jmg.34.8.696
VO 34
IS 8
A1 Stankiewicz, P
A1 Kostyk, E
A1 Bocian, E
A1 Stańczak, H
A1 Parczewska, J
A1 Piatkowska, E
A1 Mazurczak, T
A1 Pietrzyk, J J
YR 1997
UL http://jmg.bmj.com/content/34/8/696.abstract
AB 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.