PMID- 11683788
OWN - NLM
STAT- MEDLINE
DCOM- 20020125
LR  - 20190921
IS  - 0141-9854 (Print)
IS  - 0141-9854 (Linking)
VI  - 23
IP  - 4
DP  - 2001 Aug
TI  - Hyperdiploid karyotype in a childhood MDS patient.
PG  - 255-8
AB  - We present a rare case of a paediatric myelodysplastic syndrome (MDS) with 
      congenital anomalies (frontal bossing and premature closure of anterior 
      fontanelle). The case showed the clinical and biological features of a refractory 
      anaemia excess blasts (RAEB). Bone marrow (BM) cytogenetics demonstrated a 
      hyperdiploid karyotype, with several numerical abnormalities and unidentified 
      rearrangements. Fluorescence in situ hybridization (FISH) using chromosome 
      specific alpha-satellite and whole chromosome-specific painting probes verified 
      the hyperdiploid karyotype, and confirmed the origin of the unknown markers and 
      rearrangements more reliably than would be possible using conventional 
      cytogenetic techniques.
FAU - Acar, H
AU  - Acar H
AD  - Department of Genetics, Medical Faculty, Selcuk University, 42080, Konya - 
      Turkey.
FAU - Caliskan U, U
AU  - Caliskan U U
FAU - Kaynak, M
AU  - Kaynak M
FAU - Yildirim, M S
AU  - Yildirim MS
FAU - Largaespada, D A
AU  - Largaespada DA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Clin Lab Haematol
JT  - Clinical and laboratory haematology
JID - 7907061
SB  - IM
MH  - Abnormalities, Multiple
MH  - Anemia, Refractory, with Excess of Blasts/genetics
MH  - Chromosome Aberrations
MH  - Cytogenetic Analysis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Myelodysplastic Syndromes/*genetics
MH  - *Polyploidy
EDAT- 2001/10/31 10:00
MHDA- 2002/01/26 10:01
CRDT- 2001/10/31 10:00
PHST- 2001/10/31 10:00 [pubmed]
PHST- 2002/01/26 10:01 [medline]
PHST- 2001/10/31 10:00 [entrez]
AID - 396 [pii]
AID - 10.1046/j.1365-2257.2001.00396.x [doi]
PST - ppublish
SO  - Clin Lab Haematol. 2001 Aug;23(4):255-8. doi: 10.1046/j.1365-2257.2001.00396.x.