PMID- 14501832
OWN - NLM
STAT- MEDLINE
DCOM- 20040601
LR  - 20191108
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 5
IP  - 5
DP  - 2003 Sep-Oct
TI  - Problems with ISCN FISH Nomenclature make it not practical for use in clinical 
      test reports or cytogenetic databases [corrected].
PG  - 370-7
AB  - PURPOSE: To assess the extent and the sources of variation in ISCN nomenclature 
      used by participants in CAP/ACMG surveys dealing with fluorescence in situ 
      hybridization (FISH). METHODS: Over 1600 nomenclature strings from 15 challenges 
      in seven surveys were evaluated for the contributions of diagnostic errors, 
      syntax errors, methodological differences, and technical factors not foreseen by 
      ISCN 1995. RESULTS: Although diagnostic errors were uncommon, syntax errors were 
      numerous, approaching 50% of the responses for several challenges. Their 
      frequency varied with the complexity of the nomenclature required to describe a 
      test condition. Variation attributable to probe selection and band designation 
      correlated with the number of probes available for addressing the diagnostic 
      issue at hand. In the most dramatic example of this effect, a survey simulating 
      diagnosis of trisomy 21 in uncultured amniocytes, there were 66 participants (of 
      99) who used the same general form for their nomenclature, but only 8 of the 66 
      had exactly the same nomenclature string. Participants used proprietary names, 
      created their own nomenclature, or ignored the true complexity of probe systems 
      when trying to describe conditions not foreseen by ISCN 1995. CONCLUSION: The use 
      of current ISCN FISH nomenclature resulted in survey participants describing 
      unique biological conditions in a multitude of different ways. In addition to 
      making the nomenclature unsuitable for proficiency test purposes, this 
      heterogeneity makes it impractical for clinical test reporting and for 
      cytogenetic database management. Because methodological information contributes a 
      large amount of variability, adds complexity, and increases opportunities for 
      syntax errors, a system that excludes such information would be more effective.
FAU - Mascarello, James T
AU  - Mascarello JT
AD  - Genzyme Genetics, Santa Fe, New Mexico 87505, USA.
FAU - Cooley, Linda D
AU  - Cooley LD
FAU - Davison, Keri
AU  - Davison K
FAU - Dewald, Gordon W
AU  - Dewald GW
FAU - Brothman, Arthur R
AU  - Brothman AR
FAU - Herrman, Marille
AU  - Herrman M
FAU - Park, Jonathan P
AU  - Park JP
FAU - Persons, Diane L
AU  - Persons DL
FAU - Rao, Kathleen W
AU  - Rao KW
FAU - Schneider, Nancy R
AU  - Schneider NR
FAU - Vance, Gail H
AU  - Vance GH
CN  - Cytogenetics Resource Committee, College of the American Pathologists
CN  - Cytogenetics Resource Committee, American College of Medical Genetics
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
EIN - Genet Med. 2003 Nov-Dec;5(6):478
CIN - Genet Med. 2003 Sep-Oct;5(5):345-6. PMID: 14501828
MH  - Cytogenetic Analysis/*standards
MH  - Data Collection
MH  - *In Situ Hybridization, Fluorescence/standards
MH  - Laboratories/*standards
MH  - Quality Control
MH  - *Terminology as Topic
RF  - 5
EDAT- 2003/09/23 05:00
MHDA- 2004/06/02 05:00
CRDT- 2003/09/23 05:00
PHST- 2003/09/23 05:00 [pubmed]
PHST- 2004/06/02 05:00 [medline]
PHST- 2003/09/23 05:00 [entrez]
AID - 10.1097/01.gim.0000086479.80559.ea [doi]
PST - ppublish
SO  - Genet Med. 2003 Sep-Oct;5(5):370-7. doi: 10.1097/01.gim.0000086479.80559.ea.