PMID- 9217209
OWN - NLM
STAT- MEDLINE
DCOM- 19970903
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 71
IP  - 2
DP  - 1997 Aug 8
TI  - Rapid identification of marker chromosomes using primed in situ labeling (PRINS).
PG  - 130-3
AB  - Primed in situ labeling (PRINS) is a relatively new technology with wide-ranging 
      applications in clinical cytogenetics. Using PRINS, we have identified the 
      chromosomal origin of marker chromosomes in three patients. In the first patient 
      with primary amenorrhea, we were able to confirm the marker chromosome as 
      originating from an X. In the second (prenatal) case, PRINS allowed us to 
      determine rapidly the origin of the marker as a Y chromosome. In the third 
      patient with minor anomalies, the marker was identified as derived from a 
      chromosome 18. In all three cases, application of PRINS permitted us to 
      characterize the marker chromosomes within 1 hour after the slides were prepared. 
      The methodology is simple, has added advantages over conventional fluorescence in 
      situ hybridization (FISH), and can be used as a viable and effective alternative 
      to FISH in clinical cytogenetic diagnosis.
FAU - Velagaleti, G V
AU  - Velagaleti GV
AD  - Department of Pediatrics, The University of Tennessee, Memphis 38163, USA.
FAU - Tharapel, S A
AU  - Tharapel SA
FAU - Martens, P R
AU  - Martens PR
FAU - Tharapel, A T
AU  - Tharapel AT
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Primers)
RN  - 0 (DNA, Satellite)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adolescent
MH  - Adult
MH  - Amenorrhea/genetics
MH  - Amniocentesis
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Banding
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Cytodiagnosis/*methods
MH  - DNA Primers
MH  - DNA, Satellite
MH  - Female
MH  - *Genetic Markers
MH  - Humans
MH  - In Situ Hybridization/*methods
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Metaphase
MH  - Pregnancy
MH  - X Chromosome/genetics
MH  - Y Chromosome/genetics
EDAT- 1997/08/08 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/08/08 00:00
PHST- 1997/08/08 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/08/08 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19970808)71:2<130::AID-AJMG2>3.0.CO;2-1 [pii]
AID - 10.1002/(sici)1096-8628(19970808)71:2<130::aid-ajmg2>3.0.co;2-1 [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 Aug 8;71(2):130-3. doi: 
      10.1002/(sici)1096-8628(19970808)71:2<130::aid-ajmg2>3.0.co;2-1.