PMID- 1427817
OWN - NLM
STAT- MEDLINE
DCOM- 19921222
LR  - 20190902
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 14
IP  - 1
DP  - 1992 Sep
TI  - Variations in alphoid DNA sequences escape detection of aneuploidy at interphase 
      by FISH technique.
PG  - 113-6
AB  - The advent of a new staining technique, termed fluorescence in situ hybridization 
      (FISH), allows the rapid identification of the genomic constitution of an 
      individual with aneuploidy even in interphase nuclei through the use of a series 
      of chromosome-specific DNA probes, an approach termed "interphase cytogenetics." 
      However, alphoid DNA sequences of every centromere are polymorphic 
      (heteromorphic), and the number of targeted sequences may be below the detection 
      level of a specific DNA probe, thus escaping detection and resulting in the 
      imprecise identification of the chromosomal constitution at interphase. The 
      limitations associated with the FISH technique have dire consequences which are 
      emphasized here with an example in which the presence of an additional chromosome 
      21 in two siblings born consecutively with trisomy 21 (Down syndrome) was not 
      detected by "interphase cytogenetics." The copy number of alphoid DNA sequences 
      of one of the paternal chromosomes 21 was low and resulted in discordance between 
      domain numbers at interphase and actual chromosome numbers at metaphase in both 
      children. This is an isolated incident that could have led to a misdiagnosis if 
      FISH were the only test employed. Although the advantages of this technology are 
      undeniably enormous, the present finding has made it apparent that precise 
      standards and reliability of the procedure must be established prior to its 
      routine application.
FAU - Verma, R S
AU  - Verma RS
AD  - Division of Genetics, Long Island College Hospital-State University of New York 
      Health Science Center, Brooklyn 11201.
FAU - Luke, S
AU  - Luke S
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (DNA Probes)
RN  - 0 (DNA, Satellite)
SB  - IM
MH  - DNA Probes
MH  - DNA, Satellite/*genetics
MH  - Diagnostic Errors
MH  - Down Syndrome/*diagnosis/*genetics
MH  - Fluorescence
MH  - *Genetic Variation
MH  - Humans
MH  - Interphase
MH  - Nucleic Acid Hybridization
EDAT- 1992/09/01 00:00
MHDA- 1992/09/01 00:01
CRDT- 1992/09/01 00:00
PHST- 1992/09/01 00:00 [pubmed]
PHST- 1992/09/01 00:01 [medline]
PHST- 1992/09/01 00:00 [entrez]
AID - S0888-7543(05)80291-5 [pii]
AID - 10.1016/s0888-7543(05)80291-5 [doi]
PST - ppublish
SO  - Genomics. 1992 Sep;14(1):113-6. doi: 10.1016/s0888-7543(05)80291-5.