PMID- 9864379
OWN - NLM
STAT- MEDLINE
DCOM- 19990203
LR  - 20190516
IS  - 1107-3756 (Print)
IS  - 1107-3756 (Linking)
VI  - 3
IP  - 1
DP  - 1999 Jan
TI  - Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by 
      interphase-FISH.
PG  - 11-4
AB  - The possibility of distinguishing in routine diagnostics translocation trisomy 
      dup(21q) from disomy 21 as well as from free trisomy 21 using interphase 
      fluorescence in situ hybridization (FISH) with a single copy probe (LSI 21) 
      localized on chromosome 21q22.13-q22.2 is described. In free trisomy 21 and 
      translocation trisomy dup(21q) 94%-98% of the nuclei exhibit 3 specific signals, 
      while in disomy 21 only up to 6% of them have 3 false positive signals. 
      Furthermore, reliable differentiation between free and translocation trisomy 
      dup(21q) can be achieved by evaluating the percentage of nuclei with one single 
      and two co-localized chromosome 21q22.13-q22.2 specific signals in 50-100 
      interphase nuclei. While in translocation trisomy 75+/-4.3% are co-localized due 
      to a chromosomal rearrangement, in free trisomy 21 only 40+/-2.83% of the nuclei 
      have two co-localized signals by chance. No differences in interphase signal 
      distribution could be detected in two cases with a dicentric chromosome dup(21q) 
      compared to one case with a monocentric one, a comparison not previously carried 
      out. In addition, the single copy probe LSI 21 was compared with the alphoid 
      probe D13Z1/D21Z1 which was found to be unsuitable for such assays due to 
      polymorphisms in the a satellite regions of chromosome 21.
FAU - Liehr, T
AU  - Liehr T
AD  - Institut fur Humangenetik und Anthropologie, D-07740 Jena, Germany.
FAU - Starke, H
AU  - Starke H
FAU - Beensen, V
AU  - Beensen V
FAU - Kahler, C
AU  - Kahler C
FAU - Harbich, M
AU  - Harbich M
FAU - Brude, E
AU  - Brude E
FAU - Ziegler, M
AU  - Ziegler M
FAU - Claussen, U
AU  - Claussen U
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Greece
TA  - Int J Mol Med
JT  - International journal of molecular medicine
JID - 9810955
RN  - 0 (DNA Probes)
SB  - IM
MH  - Amniotic Fluid/cytology
MH  - Cell Nucleus/metabolism
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - DNA Probes
MH  - Female
MH  - Fetal Diseases/diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Translocation, Genetic
MH  - Trisomy/diagnosis/*genetics
EDAT- 1998/12/29 00:00
MHDA- 1998/12/29 00:01
CRDT- 1998/12/29 00:00
PHST- 1998/12/29 00:00 [pubmed]
PHST- 1998/12/29 00:01 [medline]
PHST- 1998/12/29 00:00 [entrez]
AID - 10.3892/ijmm.3.1.11 [doi]
PST - ppublish
SO  - Int J Mol Med. 1999 Jan;3(1):11-4. doi: 10.3892/ijmm.3.1.11.