PMID- 7784382
OWN - NLM
STAT- MEDLINE
DCOM- 19950714
LR  - 20190904
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 15
IP  - 3
DP  - 1995 Mar
TI  - Prenatal diagnosis of trisomy 21 using interphase fluorescence in situ 
      hybridization of post-replicated cells with site-specific cosmid and cosmid 
      contig probes.
PG  - 237-48
AB  - Interphase fluorescence in situ hybridization (FISH) with chromosome 21-specific 
      cosmid clones was used to identify trisomy 21 in cultured and uncultured amniotic 
      cells. Two novel site-specific cosmid clones (regions 21q22 and 21qtel) were 
      compared with a cosmid contig (Zheng et al., 1992). Correct identification of 
      chromosome 21 copy number was made in 65-75 per cent of trisomic cells and in 
      70-75 per cent of normal disomic cells by using all the tested probes. However, 
      the chromosome 21-specific telomeric probe (cos 17F8) showed the best results due 
      to more intense and clearly visible hybridization. Utilization of a directly 
      fluorophorated telomeric probe using Cy3-dCTP and FluorX-dCTP allows accurate 
      detection of chromosome 21 in a fast 'one-step' FISH procedure on uncultured 
      interphase nuclei. In addition, we compared the efficacy of FISH analysis for the 
      total population of interphase cells and cells in the post-replication (late S, 
      G2) periods of the cell cycle. Selective scoring of cells in the post-replicative 
      period (showing a pair of hybridization signals on each chromatid of the 
      replicated interphase chromosome) increased the number of informative nuclei by 
      up to 95-97 per cent. This approach allows cells with overlapping chromosomes, 
      artificial double hybridization signals on separate chromatids in interphase 
      chromosomes, background hybridization, and polyploid cells to be analysed. 
      Application of directly labelled telomeric cosmid probes and integral analysis of 
      hybridized nuclei in the pre- and post-replication periods of the cell cycle may 
      help to further improve the prenatal detection of trisomy 21.
FAU - Soloviev, I V
AU  - Soloviev IV
AD  - Laboratoire d'Histologie Embryologie-Cytogenetique, Universite d' Auvergne, 
      Faculte de Medecine, Clermont-Ferrand, France.
FAU - Yurov, Y B
AU  - Yurov YB
FAU - Vorsanova, S G
AU  - Vorsanova SG
FAU - Fayet, F
AU  - Fayet F
FAU - Roizes, G
AU  - Roizes G
FAU - Malet, P
AU  - Malet P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (DNA Probes)
SB  - IM
MH  - Amniotic Fluid/cytology
MH  - Cells, Cultured
MH  - *Cosmids
MH  - DNA Probes
MH  - Down Syndrome/*diagnosis/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
EDAT- 1995/03/01 00:00
MHDA- 1995/03/01 00:01
CRDT- 1995/03/01 00:00
PHST- 1995/03/01 00:00 [pubmed]
PHST- 1995/03/01 00:01 [medline]
PHST- 1995/03/01 00:00 [entrez]
AID - 10.1002/pd.1970150307 [doi]
PST - ppublish
SO  - Prenat Diagn. 1995 Mar;15(3):237-48. doi: 10.1002/pd.1970150307.