PMID- 10942798
OWN - NLM
STAT- MEDLINE
DCOM- 20000908
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 120
IP  - 2
DP  - 2000 Jul 15
TI  - Fluorescence in situ hybridization detection of two telomeres on the short arm of 
      a derived chromosome 16 in an infant with thrombocytopenia.
PG  - 99-104
AB  - We report a case of severe thrombocytopenia with an abnormal bone marrow 
      karyotype described by G-banding analysis as t(16;21)(p?13;q11). Using 
      fluorescence in situ hybridization (FISH) analysis with whole chromosome paints, 
      the chromosome rearrangement was shown to be more complex, with the additional 
      cryptic involvement of the long arm of chromosome 3. The chromosome rearrangement 
      involved the breakpoints 3q26, 16p13.3, and 21q11; this rearrangement has not 
      been previously described. The size of genomic material translocated from the 
      chromosome 16 homologue was too small to be detected by chromosome paint. A 
      16p-specific telomeric probe was hybridized to locate the translocated 16p 
      material. The 16p telomeric unique sequence DNA was retained on the der(16) 
      chromosome, indicating a more distal breakpoint. This study demonstrates that 
      telomeric translocations can occur that would be undetected by telomeric-specific 
      FISH probes.
FAU - Gribble, S
AU  - Gribble S
AD  - Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
FAU - Andrews, K
AU  - Andrews K
FAU - Williams, D
AU  - Williams D
FAU - Tillett, A
AU  - Tillett A
FAU - Bloxham, D
AU  - Bloxham D
FAU - Proffit, J
AU  - Proffit J
FAU - Hackbarth, M
AU  - Hackbarth M
FAU - Grace, C
AU  - Grace C
FAU - Green, A
AU  - Green A
FAU - Nacheva, E
AU  - Nacheva E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Bone Marrow Cells/metabolism/pathology
MH  - Chromosome Banding
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Telomere/*genetics
MH  - Thrombocytopenia/genetics/*pathology
MH  - Translocation, Genetic
EDAT- 2000/08/16 11:00
MHDA- 2000/09/19 11:01
CRDT- 2000/08/16 11:00
PHST- 2000/08/16 11:00 [pubmed]
PHST- 2000/09/19 11:01 [medline]
PHST- 2000/08/16 11:00 [entrez]
AID - S0165-4608(99)00259-9 [pii]
AID - 10.1016/s0165-4608(99)00259-9 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2000 Jul 15;120(2):99-104. doi: 
      10.1016/s0165-4608(99)00259-9.