PMID- 17072374
OWN - NLM
STAT- MEDLINE
DCOM- 20070703
LR  - 20191210
IS  - 0386-300X (Print)
IS  - 0386-300X (Linking)
VI  - 60
IP  - 5
DP  - 2006 Oct
TI  - Assessment of molecular cytogenetic methods for the detection of chromosomal 
      abnormalities.
PG  - 279-87
AB  - Some marker chromosomes and chromosome rearrangements are difficult to identify 
      using G-bands by Giemsa staining after trypsin treatment (G-banding) alone. 
      Molecular cytogenetic techniques, such as spectral karyotyping (SKY) and 
      fluorescence in situ hybridization (FISH), can help to detect chromosomal 
      aberrations precisely. We analyzed the karyotypes in 6 cases of multiple 
      congenital abnormalities and 1 case of spontaneous abortion (case 2). Three cases 
      (cases 1, 6, and 7) had marker chromosomes, and 4 cases (cases 2-5) had 
      chromosomal rearrangements. The karyotypes in cases 1, 2, and 3 were determined 
      using FISH with probes based on the clinical findings and family histories. 
      Spectral karyotyping (SKY) analysis in cases 4-7 showed that this method is 
      useful and saves time. The combination of SKY and FISH analyses defined the range 
      of the ring chromosome in case 7. We demonstrated that a combination of 
      G-banding, FISH, and SKY can be applied effectively to the investigation of 
      chromosomal rearrangement and to the detection of marker chromosome origins. We 
      suggest the use of these methods for prenatal diagnosis, in which the inherent 
      time limitations are particularly important.
FAU - Une, Tomoka
AU  - Une T
AD  - Department of Pediatrics, Okayama University Graduate School of Medicine, 
      Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan. 
      tomoka-u@nifty.com
FAU - Yokoyama, Yuji
AU  - Yokoyama Y
FAU - Ninomiya, Shinsuke
AU  - Ninomiya S
FAU - Shinozuka, Masako
AU  - Shinozuka M
FAU - Maruyama, Hidehiko
AU  - Maruyama H
FAU - Morishima, Tsuneo
AU  - Morishima T
LA  - eng
PT  - Case Reports
PT  - Evaluation Study
PT  - Journal Article
PL  - Japan
TA  - Acta Med Okayama
JT  - Acta medica Okayama
JID - 0417611
SB  - IM
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosome Banding/methods
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
EDAT- 2006/10/31 09:00
MHDA- 2007/07/04 09:00
CRDT- 2006/10/31 09:00
PHST- 2006/10/31 09:00 [pubmed]
PHST- 2007/07/04 09:00 [medline]
PHST- 2006/10/31 09:00 [entrez]
AID - 10.18926/AMO/30740 [doi]
PST - ppublish
SO  - Acta Med Okayama. 2006 Oct;60(5):279-87. doi: 10.18926/AMO/30740.