PMID- 10083730
OWN - NLM
STAT- MEDLINE
DCOM- 19990407
LR  - 20220318
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 2
DP  - 1999
TI  - Clinical applications of two-color telomeric fluorescence in situ hybridization 
      for prenatal diagnosis: identification of chromosomal translocation in five 
      families with recurrent miscarriages or a child with multiple congenital 
      anomalies.
PG  - 85-90
AB  - Two-color fluorescence in situ hybridization (FISH) analysis using human 
      chromosome arm-specific telomeric probes (telomeric probes) was used successfully 
      to detect each derivative chromosome of a translocation carrier in five couples 
      who requested a prenatal diagnosis in future pregnancies. Most of the human 
      chromosome terminal bands are G-band-negative, and even FISH analysis using 
      whole-chromosome painting (wcp) probes are often of insufficient complexity to 
      detect subtle chromosomal changes. A complete set of human telomeric probes was 
      developed to improve the sensitivity of diagnosis of microdeletions or other 
      cryptic rearrangements in telomeric regions. Two-color telomeric FISH was the 
      only possible method for precise prenatal diagnosis of one of the couples, 
      because the carrier's chromosomal aberration was too subtle to be detected by wcp 
      FISH or conventional methods. We have demonstrated that two-color telomeric FISH 
      has the potential to be a powerful new tool in the detection of cryptic 
      chromosomal rearrangements involving telomeric regions in prenatal diagnosis 
      precisely and in time.
FAU - Wakui, K
AU  - Wakui K
AD  - Department of Hygiene and Medical Genetics, Shinshu University School of 
      Medicine, Nagano, Japan.
FAU - Tanemura, M
AU  - Tanemura M
FAU - Suzumori, K
AU  - Suzumori K
FAU - Hidaka, E
AU  - Hidaka E
FAU - Ishikawa, M
AU  - Ishikawa M
FAU - Kubota, T
AU  - Kubota T
FAU - Fukushima, Y
AU  - Fukushima Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Abortion, Habitual
MH  - Chromosome Banding
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping/methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - *Telomere
EDAT- 1999/03/20 00:00
MHDA- 1999/03/20 00:01
CRDT- 1999/03/20 00:00
PHST- 1999/03/20 00:00 [pubmed]
PHST- 1999/03/20 00:01 [medline]
PHST- 1999/03/20 00:00 [entrez]
AID - 10.1007/s100380050115 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(2):85-90. doi: 10.1007/s100380050115.