PMID- 11891682
OWN - NLM
STAT- MEDLINE
DCOM- 20020403
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 108
IP  - 3
DP  - 2002 Mar 15
TI  - Identification of de novo chromosome rearrangements: five cases analyzed with 
      differential chromosome painting.
PG  - 182-6
AB  - 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.
FAU - Ida, Tomoko
AU  - Ida T
AD  - Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan. 
      idatomo@kyushums.co.jp
FAU - Harada, Naoki
AU  - Harada N
FAU - Abe, Kyoko
AU  - Abe K
FAU - Kondoh, Tatsuro
AU  - Kondoh T
FAU - Yoshinaga, Muneyoshi
AU  - Yoshinaga M
FAU - Maki, Takashi
AU  - Maki T
FAU - Niikawa, Norio
AU  - Niikawa N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Chromosomes, Human, Pair 10/genetics
MH  - Chromosomes, Human, Pair 3/genetics
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Female
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - *Translocation, Genetic
EDAT- 2002/03/14 10:00
MHDA- 2002/04/04 10:01
CRDT- 2002/03/14 10:00
PHST- 2002/03/14 10:00 [pubmed]
PHST- 2002/04/04 10:01 [medline]
PHST- 2002/03/14 10:00 [entrez]
AID - 10.1002/ajmg.10257 [pii]
AID - 10.1002/ajmg.10257 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Mar 15;108(3):182-6. doi: 10.1002/ajmg.10257.