PMID- 8262301
OWN - NLM
STAT- MEDLINE
DCOM- 19940127
LR  - 20190816
IS  - 0301-2115 (Print)
IS  - 0301-2115 (Linking)
VI  - 50
IP  - 3
DP  - 1993 Aug
TI  - Molecular cytogenetics: applications in clinical genetics.
PG  - 235-42
AB  - To illustrate the advantage of fluorescence in situ hybridization (FISH) in 
      clinical genetics, we have chosen six clinical cases from our routine laboratory 
      where we have used molecular cytogenic techniques to optimise the cytogenetic 
      analysis. Using centromere-specific DNA probes and whole chromosome DNA libraries 
      either obtained from somatic cell hybrids or generated from flow-sorted 
      chromosomes, we have been able to identify small marker chromosomes, chromosomal 
      duplications and inversions, to determine the ploidy in interphase nuclei, and to 
      characterize subtle chromosomal translocations. We conclude that molecular 
      cytogenetics is a valuable technique that should be used as a supplement to 
      conventional cytogenetics to reduce the number of unresolved karyotypes in 
      clinical genetics.
FAU - Brandt, C A
AU  - Brandt CA
AD  - Institute of Human Genetics, University of Aarhus, Denmark.
FAU - Hindkjaer, J
AU  - Hindkjaer J
FAU - Stromkjaer, H
AU  - Stromkjaer H
FAU - Pedersen, S
AU  - Pedersen S
FAU - Sunde, L
AU  - Sunde L
FAU - Kolvraa, S
AU  - Kolvraa S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Ireland
TA  - Eur J Obstet Gynecol Reprod Biol
JT  - European journal of obstetrics, gynecology, and reproductive biology
JID - 0375672
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aneuploidy
MH  - Cell Nucleus/physiology
MH  - Child, Preschool
MH  - Chromosome Aberrations/*physiology
MH  - Chromosome Inversion
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Interphase/genetics
MH  - Karyotyping
MH  - Male
MH  - Translocation, Genetic
EDAT- 1993/08/01 00:00
MHDA- 1993/08/01 00:01
CRDT- 1993/08/01 00:00
PHST- 1993/08/01 00:00 [pubmed]
PHST- 1993/08/01 00:01 [medline]
PHST- 1993/08/01 00:00 [entrez]
AID - 0028-2243(93)90206-R [pii]
AID - 10.1016/0028-2243(93)90206-r [doi]
PST - ppublish
SO  - Eur J Obstet Gynecol Reprod Biol. 1993 Aug;50(3):235-42. doi: 
      10.1016/0028-2243(93)90206-r.