PMID- 8559753
OWN - NLM
STAT- MEDLINE
DCOM- 19960227
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 15
IP  - 9
DP  - 1995 Sep
TI  - Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to 
      chromosome 22 in the prenatal screening of common chromosomal aneuploidies by 
      FISH.
PG  - 831-4
AB  - In a routine application of commercially available centromeric DNA probes for the 
      prenatal screening of common trisomies involving the autosomes 13, 18, and 21, 
      and sex chromosomes, four cases of discrepancy between fluorescence in situ 
      hybridization (FISH) results and follow-up cytogenetic analysis were observed 
      from a total of 516 cases of amniocentesis. In three of these cases, the results 
      were false negative, and in one false positive. In this case, amniocentesis was 
      performed because of a positive triple test in a 34-year-old woman with previous 
      infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 
      revealed five signals in 50 per cent of uncultured amniocytes, while standard 
      cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase 
      chromosomes demonstrated the location of the additional signal in the centromeric 
      region of chromosome 22. This additional signal was also present in the 
      centromeric region of chromosome 22 of the mother, providing evidence for a 
      possible inherited polymorphism in chromosome 22 responsible for unspecific 
      hybridization with the alpha satellite probe for chromosomes 13/21 in this case. 
      The observed polymorphism in centromeric regions may contribute to unreliability 
      of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.
FAU - Verlinsky, Y
AU  - Verlinsky Y
AD  - Reproductive Genetics Institute, Chicago, Illinois, USA.
FAU - Ginsberg, N
AU  - Ginsberg N
FAU - Chmura, M
AU  - Chmura M
FAU - Freidine, M
AU  - Freidine M
FAU - White, M
AU  - White M
FAU - Strom, C
AU  - Strom C
FAU - Kuliev, A
AU  - Kuliev A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (DNA Probes)
RN  - 0 (DNA, Satellite)
SB  - IM
CIN - Prenat Diagn. 1996 Jun;16(6):577. PMID: 8809903
CIN - Prenat Diagn. 1996 Aug;16(8):769-70. PMID: 8878290
CIN - Prenat Diagn. 1997 May;17(5):487-8. PMID: 9178328
MH  - Adult
MH  - *Amniocentesis
MH  - Amniotic Fluid/cytology
MH  - *Aneuploidy
MH  - Cells, Cultured
MH  - Chromosomes, Human, 21-22 and Y
MH  - Chromosomes, Human, Pair 13
MH  - DNA Probes
MH  - DNA, Satellite/*genetics
MH  - Diagnostic Errors
MH  - Female
MH  - *Genetic Testing
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Polymorphism, Genetic
MH  - Pregnancy
MH  - Prospective Studies
EDAT- 1995/09/01 00:00
MHDA- 1995/09/01 00:01
CRDT- 1995/09/01 00:00
PHST- 1995/09/01 00:00 [pubmed]
PHST- 1995/09/01 00:01 [medline]
PHST- 1995/09/01 00:00 [entrez]
AID - 10.1002/pd.1970150907 [doi]
PST - ppublish
SO  - Prenat Diagn. 1995 Sep;15(9):831-4. doi: 10.1002/pd.1970150907.