PMID- 8125474
OWN - NLM
STAT- MEDLINE
DCOM- 19940412
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 93
IP  - 3
DP  - 1994 Mar
TI  - The utilization of interphase cytogenetic analysis for the detection of 
      mosaicism.
PG  - 243-7
AB  - This study describes a method for defining mosaic aneuploidy by interphase 
      cytogenetics based on statistical limits established from control specimens. 
      Fluorescence in situ hybridization (FISH) has been used to detect the number of 
      copies of specific chromosomes in interphase nuclei from placental tissues of 
      diploid controls and mosaic placentas. FISH was performed using probes D7Z1/D7Z2, 
      D9Z1, D10Z1, and D18Z1, all purchased from Oncor, Inc. Statistical analysis of 
      data obtained from diploid controls was used to determine the one-sided upper 
      reference limit and corresponding 95% confidence interval for the proportion of 
      cells with one and three signals for each of the probes used. The one-sided upper 
      reference limits established the lower levels of monosomy and trisomy detectable 
      using each of the four probes. These statistical parameters were then used to 
      interpret the results obtained by FISH applied to the study of term placentas for 
      the confirmation of prenatally diagnosed chromosomal mosaicism.
FAU - Lomax, B L
AU  - Lomax BL
AD  - Department of Pathology, University of British Columbia, Vancouver, Canada.
FAU - Kalousek, D K
AU  - Kalousek DK
FAU - Kuchinka, B D
AU  - Kuchinka BD
FAU - Barrett, I J
AU  - Barrett IJ
FAU - Harrison, K J
AU  - Harrison KJ
FAU - Safavi, H
AU  - Safavi H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Aneuploidy
MH  - Cells, Cultured
MH  - Culture Techniques
MH  - Diploidy
MH  - Evaluation Studies as Topic
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Karyotyping
MH  - Mosaicism/*diagnosis
MH  - Placenta
MH  - Pregnancy
MH  - Sensitivity and Specificity
EDAT- 1994/03/01 00:00
MHDA- 1994/03/01 00:01
CRDT- 1994/03/01 00:00
PHST- 1994/03/01 00:00 [pubmed]
PHST- 1994/03/01 00:01 [medline]
PHST- 1994/03/01 00:00 [entrez]
AID - 10.1007/BF00212016 [doi]
PST - ppublish
SO  - Hum Genet. 1994 Mar;93(3):243-7. doi: 10.1007/BF00212016.