PMID- 7919346
OWN - NLM
STAT- MEDLINE
DCOM- 19941107
LR  - 20210216
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 84
IP  - 7
DP  - 1994 Oct 1
TI  - Interphase cytogenetic analysis of in vivo differentiation in the myelodysplasia 
      of Down syndrome.
PG  - 2278-82
AB  - In Down syndrome, acute megakaryoblastic leukemia (AMKL) occurs frequently during 
      the first 4 years of life and is usually preceded by a period of myelodysplasia 
      (MDS), often associated with chromosomal abnormalities. Archival peripheral blood 
      and/or bone marrow films of six patients with Down syndrome and MDS whose 
      leukemic cells contained monosomy 7 or trisomy 8 were studied to determine 
      whether the abnormal precursors produce mature cells in vivo. Using fluorescence 
      in situ hybridization (FISH) of interphase nuclei with chromosome-specific 
      centromere probes for either chromosome 7 or 8, we were able to determine which 
      cells had one, two, or three signals indicative of one, two, or three no. 7 or 8 
      chromosomes. In five patients with trisomy 8, 80% to 100% (94.5% +/- 6.2%) of the 
      megakaryoblasts had three signals using a chromosome 8 probe; in one patient with 
      monosomy 7, 96.5% of the megakaryoblasts had one signal using a chromosome 7 
      probe. In all six patients, the myeloid and lymphoid series did not have evidence 
      of the chromosomal abnormality present in the blasts. In three of five patients 
      with trisomy 8, three signals were observed in 27%, 33%, and 41% of normoblasts, 
      respectively. These data are evidence that the abnormal cell in MDS is a 
      progenitor cell with the potential of forming cells of megakaryocyte and 
      erythroid lineages.
FAU - Zipursky, A
AU  - Zipursky A
AD  - Department of Pediatrics, Hospital for Sick Children, Toronto, Canada.
FAU - Wang, H
AU  - Wang H
FAU - Brown, E J
AU  - Brown EJ
FAU - Squire, J
AU  - Squire J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
SB  - IM
MH  - Adult
MH  - Child
MH  - Chromosome Aberrations/diagnosis
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 7
MH  - Chromosomes, Human, Pair 8
MH  - Down Syndrome/*genetics/pathology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Myelodysplastic Syndromes/*genetics/pathology
MH  - Trisomy
EDAT- 1994/10/01 00:00
MHDA- 1994/10/01 00:01
CRDT- 1994/10/01 00:00
PHST- 1994/10/01 00:00 [pubmed]
PHST- 1994/10/01 00:01 [medline]
PHST- 1994/10/01 00:00 [entrez]
AID - S0006-4971(20)76512-2 [pii]
PST - ppublish
SO  - Blood. 1994 Oct 1;84(7):2278-82.