Identification of de novo chromosome rearrangements: five cases analyzed with differential chromosome painting.
We report on five cases of de novo structural chromosome rearrangements that were difficult to identify by conventional G-banding analysis. In all five cases, differential chromosome painting (DCP) provided evidence for the presence of an additional segment and its origin. A combination of DCP with subsequent conventional fluorescence in situ hybridization (FISH) analysis using adequate locus-specific probes and reexamination of G-banding patterns resulted in successful identification of the rearrangements. Their karyotypes were finally interpreted as 46,XY,der(1)(qter --> q42.1::p36.3 --> qter) in case 1; 46,XY,der(8)(8pter -->8q24.3::8q24.3 --> 8q23.2::?p11.2 --> ?ps) in case 2; 47,XY,+der(10)(pter --> q11) in case 3; 46,XX,der(3)(17pter --> 17p11.2::3p26 --> 3qter) in case 4; and 46,XY,dup(1) (pter --> q32::q25 --> qter) in case 5.
Ida
Tomoko
T
Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan. idatomo@kyushums.co.jp
Harada
Naoki
N
Abe
Kyōko
K
Kondoh
Tatsuro
T
Yoshinaga
Muneyoshi
M
Maki
Takashi
T
Niikawa
Norio
N
D002675:Child, Preschool; D002871:Chromosome Banding; D020223:Chromosome Painting; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic