Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12.
We describe the application of multi-color fluorescence in situ hybridization (FISH) in the characterization of a familial pericentric inversion. Using chromosome 12 short- and long-arm specific DNA probes, fast and reliable discrimination between normal and inversion chromosome 12 or recombinant inversion chromosome 12 was possible. FISH thus provides a reliable means for prenatal detection of balanced or unbalanced chromosome 12 rearrangements in this family. This approach is possible for identification of similar chromosome rearrangements provided that probes for the putatively involved chromosome region are available.
Speleman
F
F
Department of Medical Genetics, University Hospital, Gent, Belgium.
Van Roy
N
N
De Vos
E
E
Hilliker
C
C
Suijkerbuijk
R F
RF
Leroy
J G
JG
D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002881:Chromosomes, Human, Pair 12; D015342:DNA Probes; D005183:Failure to Thrive / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome
D015342:DNA Probes