PMID- 1609805
OWN - NLM
STAT- MEDLINE
DCOM- 19920723
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 51
IP  - 1
DP  - 1992 Jul
TI  - Rapid detection of chromosome aneuploidies in uncultured amniocytes by using 
      fluorescence in situ hybridization (FISH).
PG  - 55-65
AB  - Herein we report the results of the first major prospective study directly 
      comparing aneuploidy detection by fluorescence in situ hybridization of 
      interphase nuclei with the results obtained by cytogenetic analysis. We 
      constructed probes derived from specific subregions of human chromosomes 21, 18, 
      13, X, and Y that give a single copy-like signal when used in conjunction with 
      suppression hybridization. A total of 526 independent amniotic fluid samples were 
      analyzed in a blind fashion. All five probes were analyzed on 117 samples, while 
      subsets of these five probes were used on the remaining samples (because of 
      insufficient sample size), for a total of over 900 autosomal hybridization 
      reactions and over 400 sex chromosome hybridization reactions. In this blind 
      series, 21 of 21 abnormal samples were correctly identified. The remaining 
      samples were correctly classified as disomic for these five chromosomes. The 
      combination of chromosome-specific probe sets composed primarily of cosmid 
      contigs and optimized hybridization/detection allowed accurate chromosome 
      enumeration in uncultured human amniotic fluid cells, consistent with the results 
      obtained by traditional cytogenetic analysis.
FAU - Klinger, K
AU  - Klinger K
AD  - Brigham and Women's Hospital, Boston, MA.
FAU - Landes, G
AU  - Landes G
FAU - Shook, D
AU  - Shook D
FAU - Harvey, R
AU  - Harvey R
FAU - Lopez, L
AU  - Lopez L
FAU - Locke, P
AU  - Locke P
FAU - Lerner, T
AU  - Lerner T
FAU - Osathanondh, R
AU  - Osathanondh R
FAU - Leverone, B
AU  - Leverone B
FAU - Houseal, T
AU  - Houseal T
AU  - et al.
LA  - eng
GR  - 8-R44HG00302-03/HG/NHGRI NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA Probes)
SB  - IM
MH  - Amniocentesis
MH  - *Aneuploidy
MH  - Chromosome Aberrations/*diagnosis
MH  - Chromosome Disorders
MH  - DNA Probes
MH  - Female
MH  - Genetic Techniques
MH  - Humans
MH  - Microscopy, Fluorescence
MH  - Nucleic Acid Hybridization
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Prospective Studies
PMC - PMC1682861
EDAT- 1992/07/01 00:00
MHDA- 1992/07/01 00:01
PMCR- 1993/01/01
CRDT- 1992/07/01 00:00
PHST- 1992/07/01 00:00 [pubmed]
PHST- 1992/07/01 00:01 [medline]
PHST- 1992/07/01 00:00 [entrez]
PHST- 1993/01/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1992 Jul;51(1):55-65.