De novo concurrent 5p deletion and distal 17q duplication identified by fluorescence in situ hybridization (FISH).
A de novo case of unbalanced 5p/17q translocation showing a concurrent 5p deletion and distal 17q duplication has initially eluded a definitive cytogenetic identification based on chromosome banding patterns and clinical features. But it is subsequently unequivocally identified by fluorescence in situ hybridization technique using various whole chromosome painting probes.
Szego
K
K
Rush Medical Laboratories, Rush-Presbyterian-St. Luke's Medical Center, Chicago, IL 60612.
Rauer
M
M
Baratta
E
E
Hoo
J J
JJ
D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D014178:Translocation, Genetic