PMID- 9276596
OWN - NLM
STAT- MEDLINE
DCOM- 19970909
LR  - 20190516
IS  - 0025-6196 (Print)
IS  - 0025-6196 (Linking)
VI  - 72
IP  - 8
DP  - 1997 Aug
TI  - Detection of newborn aneuploidy by interphase fluorescence in situ hybridization.
PG  - 705-10
AB  - OBJECTIVE: To test fluorescence in situ hybridization (FISH) probes for rapid 
      detection of aneuploidy of chromosomes 13, 18, 21, X, and Y from newborn 
      uncultured blood samples. MATERIAL AND METHODS: Directly labeled, multicolored, 
      commercially available FISH probes for the five aforementioned chromosomes were 
      validated, and their hybridization efficiencies were established. In a blinded 
      study, eight trisomic samples were tested by this FISH method. RESULTS: The 
      hybridization efficiency based on metaphase evaluation of each of the five probes 
      was 100%, and no cross-hybridization occurred. The mean interphase hybridization 
      efficiencies of the probes for chromosomes 13, 18, 21, X, and Y were 97.4 %, 89.4 
      %, 96.1%, 94.4 %, and 100 %, respectively. The eight abnormal samples were 
      identified as trisomy 21 (in six), trisomy 13 (in one), and trisomy 18 (in one). 
      CONCLUSION: The screening of aneuploidy of newborns for chromosomes 13, 18, 21, 
      X, or Y by interphase FISH is rapid, reliable, and cost-effective. The test is 
      especially suitable for medically urgent cases as a screen, followed by a 
      standard chromosome analysis.
FAU - Jalal, S M
AU  - Jalal SM
AD  - Division of Laboratory Genetics, Mayo Clinic Rochester, Minnesota 55905, USA.
FAU - Law, M E
AU  - Law ME
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Mayo Clin Proc
JT  - Mayo Clinic proceedings
JID - 0405543
RN  - 0 (DNA Probes)
SB  - IM
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 13/genetics
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - DNA Probes
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - *Interphase
MH  - Karyotyping
MH  - X Chromosome/genetics
MH  - Y Chromosome/genetics
EDAT- 1997/08/01 00:00
MHDA- 1997/08/01 00:01
CRDT- 1997/08/01 00:00
PHST- 1997/08/01 00:00 [pubmed]
PHST- 1997/08/01 00:01 [medline]
PHST- 1997/08/01 00:00 [entrez]
AID - S0025-6196(11)63588-X [pii]
AID - 10.4065/72.8.705 [doi]
PST - ppublish
SO  - Mayo Clin Proc. 1997 Aug;72(8):705-10. doi: 10.4065/72.8.705.