Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization.
Fluorescent in situ hybridization (FISH) identified a cryptic balanced reciprocal translocation in the mother of an infant with the cri-duchat syndrome. A biotinylated probe from a flow-sorted chromosome 5 cosmid library was used to show the distal deletion of 5p15.2 in the propositus and a translocation of this segment to the distal end of 7 at 7p21 in his mother. In a subsequent pregnancy, the fetus was shown to have normal chromosomes using the same 5 cosmid library probe and a locus-specific probe derived from the 5p15.3 region. The importance of incorporating FISH into the routine diagnostic laboratory is discussed.
Department of Pediatrics, University of California, Irvine.
R
R
Bernstein
M E
ME
Bocian
M J
MJ
Cain
U
U
Bengtsson
J J
JJ
Wasmuth
D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D003360:Cosmids; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D015723:Gene Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D066298:In Vitro Techniques; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D014178:Translocation, Genetic
D015342:DNA Probes