PMID- 10982178
OWN - NLM
STAT- MEDLINE
DCOM- 20000922
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 106
IP  - 1
DP  - 2000 Jan
TI  - Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in 
      lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ 
      hybridization on binucleated lymphocytes.
PG  - 29-35
AB  - In order to detect aneuploidy in interphase human lymphocytes, both in vivo and 
      in vitro, fluorescence in situ hybridization (FISH) was carried out on 
      binucleated cells cytokinesis-blocked by cytochalasin B at the first mitosis 
      after phytohemagglutinin stimulation. A pericentric chromosome-21-specific DNA 
      probe prepared from yeast artificial chromosome clone 881D2 by the polymerase 
      chain reaction was employed. One thousand binucleated cells per individual were 
      scored from cultures from twelve trisomy 21 patients aged 0.01-8.9 years (mean 
      4.3 years) and 20 normal children of similar age. Of trisomy 21 patients, 
      increased frequencies of disomic cells in vivo (1.690+/-1.070%) and cells 
      containing six signals with nondisjunction (0.822+/-0.554%) were found, compared 
      with those of monosomic 21 cells in vivo (0.265+/-0.130%) and cells containing 
      four signals with nondisjunction in normal children (0.369+/-0.250%; P=0.000 and 
      P=0.000, respectively). These results show that malsegregation of chromosome 21 
      occurs more often in trisomic 21 cells than in disomic cells from normal 
      children. The frequency of nondisjunction was significantly higher than the loss 
      of chromosome 21 in both cultured trisomic (0.822+/-0.554% vs 0.043+/-0.049%, 
      P=0.000) and disomic (0.369+/-0.250% vs 0.010+/-0.30%, P=0.000) cells. 
      Comparisons of in vivo and in vitro data on aneuploidy indicate that a cell 
      selection mechanism may exist in vivo. All these results show that FISH, with a 
      chromosome-specific probe, on binucleated lymphocytes is a powerful tool for 
      simultaneously detecting mosaic cell lines in vivo and malsegregation (loss and 
      nondisjunction) of a corresponding chromosome in vitro in the same cell 
      population.
FAU - Shi, Q
AU  - Shi Q
AD  - Institut fur Saugetiergenetik, GSF Forschungszentrum fur Umwelt und Gesundheit, 
      Neuherberg, Germany. qshi@ucalgary.ca
FAU - Adler, I D
AU  - Adler ID
FAU - Zhang, J
AU  - Zhang J
FAU - Zhang, X
AU  - Zhang X
FAU - Shan, X
AU  - Shan X
FAU - Martin, R
AU  - Martin R
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Case-Control Studies
MH  - Cell Division/genetics
MH  - Cell Line
MH  - Centromere/ultrastructure
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Segregation
MH  - Chromosomes, Artificial, Yeast
MH  - *Chromosomes, Human, Pair 21
MH  - Down Syndrome/*genetics
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Lymphocytes/ultrastructure
MH  - Male
MH  - Models, Genetic
MH  - *Mosaicism
MH  - Polymerase Chain Reaction
EDAT- 2000/09/12 11:00
MHDA- 2000/09/30 11:01
CRDT- 2000/09/12 11:00
PHST- 2000/09/12 11:00 [pubmed]
PHST- 2000/09/30 11:01 [medline]
PHST- 2000/09/12 11:00 [entrez]
AID - 10.1007/s004390051005 [doi]
PST - ppublish
SO  - Hum Genet. 2000 Jan;106(1):29-35. doi: 10.1007/s004390051005.