PMID- 12752567
OWN - NLM
STAT- MEDLINE
DCOM- 20031224
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 63
IP  - 5
DP  - 2003 May
TI  - Analysis of marker or complex chromosomal rearrangements present in pre- and 
      post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping 
      and fluorescence in situ hybridization.
PG  - 358-67
AB  - The significance of complex chromosomal rearrangements presents a diagnostic 
      dilemma. In the past, the use of G-banding coupled with fluorescence in situ 
      hybridization (FISH) has been the standard approach. The recent development of 
      spectral karyotyping (SKY) and multicolor FISH (M-FISH) has resulted in an 
      increased accuracy of identification of marker or other complex chromosomal 
      rearrangements. However, owing to the additional cost and time associated with 
      SKY or M-FISH, and the restricted availability of such imaging facilities in many 
      centers, it is not feasible to perform these procedures routinely on every 
      sample. In addition, the identification of an aberration by SKY or M-FISH will 
      often require confirmation by FISH. A practical approach is needed to take 
      advantage of the complementary strengths of each method. In our center we utilize 
      an algorithm that dictates the use of routine G-banding for the initial 
      preliminary evaluation of a patient, followed by SKY characterization if marker 
      chromosomes or complex translocations are detected by the G-banding analysis. 
      According to this algorithm, FISH is used to verify the results once the origin 
      of the abnormal chromosome has been determined by SKY. To demonstrate the 
      effectiveness of this algorithm, we have analyzed both amniocyte and lymphocyte 
      slides, using a combination of G-banding, SKY, and FISH. Our results confirm that 
      an algorithm which selectively uses SKY or M-FISH will provide an efficient and 
      improved method for pre- and post-natal chromosomal analysis.
FAU - Heng, H H Q
AU  - Heng HH
AD  - Center for Molecular Medicine and Genetics, Department of Pathology, Wayne State 
      University School of Medicine, Detroit, Michigan, USA. hheng@genetics.wayne.edu
FAU - Ye, C J
AU  - Ye CJ
FAU - Yang, F
AU  - Yang F
FAU - Ebrahim, S
AU  - Ebrahim S
FAU - Liu, G
AU  - Liu G
FAU - Bremer, S W
AU  - Bremer SW
FAU - Thomas, C M
AU  - Thomas CM
FAU - Ye, J
AU  - Ye J
FAU - Chen, T J
AU  - Chen TJ
FAU - Tuck-Muller, C
AU  - Tuck-Muller C
FAU - Yu, J W
AU  - Yu JW
FAU - Krawetz, S A
AU  - Krawetz SA
FAU - Johnson, A
AU  - Johnson A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Algorithms
MH  - Amniotic Fluid/cytology
MH  - *Chromosome Aberrations
MH  - Chromosome Banding/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant, Newborn
MH  - Karyotyping/*methods
MH  - Lymphocytes/ultrastructure
MH  - Male
MH  - Mass Screening/methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
EDAT- 2003/05/20 05:00
MHDA- 2003/12/25 05:00
CRDT- 2003/05/20 05:00
PHST- 2003/05/20 05:00 [pubmed]
PHST- 2003/12/25 05:00 [medline]
PHST- 2003/05/20 05:00 [entrez]
AID - 072 [pii]
AID - 10.1034/j.1399-0004.2003.00072.x [doi]
PST - ppublish
SO  - Clin Genet. 2003 May;63(5):358-67. doi: 10.1034/j.1399-0004.2003.00072.x.