PMID- 11807885
OWN - NLM
STAT- MEDLINE
DCOM- 20020213
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 107
IP  - 2
DP  - 2002 Jan 15
TI  - Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis 
      by primed in situ labeling (PRINS).
PG  - 119-22
AB  - A recently developed methodology-primed in situ labeling (PRINS)-can be used in 
      place of fluorescence in situ hybridization (FISH) to diagnose microdeletions. To 
      demonstrate the efficiency, sensitivity, and specificity of PRINS in the 
      diagnosis of microdeletions, we studied groups of patients with Prader 
      Willi/Angelman (PWS/AS) syndrome and DiGeorge/velocardiofacial syndrome 
      (DGS/VCFS). Results obtained by PRINS were then confirmed with the results 
      obtained with FISH. Oligonucleotide primers specific for SNRPN and GABRB3 were 
      used for PWS/AS syndromes. For DGS/VCFS, the primers used were DGCR2/TUPLE1 loci. 
      Labeling patterns obtained by PRINS and FISH were analyzed and scored under a 
      fluorescence microscope. Five normal subjects served as controls and were used 
      for standardization of the PRINS protocol. In all, 20 study patients were 
      involved: 10 PWS/AS and 10 DGS/VCFS. Five of the 10 patients referred with the 
      clinical diagnosis of PWS/AS showed absence of labeling for SNRPN and GABRB3 on 
      one chromosome 15, confirming deletion of the two loci. Similarly, 6 of the 10 
      patients referred for DGS/VCFS showed deletion for the DGCR2/TUPLE1 loci on one 
      chromosome 22. The remaining patients and controls had normal patterns for all 
      the loci as indicated by FISH and PRINS. Concordant FISH and PRINS results were 
      obtained in all patients and controls studied.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Tharapel, Avirachan T
AU  - Tharapel AT
AD  - Department of Pediatrics, University of Tennessee, Memphis, Tennessee 38105, USA. 
      atharapel@utmem.edu
FAU - Kadandale, Jayarama S
AU  - Kadandale JS
FAU - Martens, Paula R
AU  - Martens PR
FAU - Wachtel, Stephen S
AU  - Wachtel SS
FAU - Wilroy, R Sid Jr
AU  - Wilroy RS Jr
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Primers)
SB  - IM
MH  - Angelman Syndrome/*diagnosis/genetics
MH  - Base Sequence
MH  - DNA Primers
MH  - DiGeorge Syndrome/*diagnosis/genetics
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Prader-Willi Syndrome/*diagnosis/genetics
MH  - Primed In Situ Labeling/*methods
MH  - Sensitivity and Specificity
EDAT- 2002/01/25 10:00
MHDA- 2002/02/14 10:01
CRDT- 2002/01/25 10:00
PHST- 2002/01/25 10:00 [pubmed]
PHST- 2002/02/14 10:01 [medline]
PHST- 2002/01/25 10:00 [entrez]
AID - 10.1002/ajmg.10106 [pii]
AID - 10.1002/ajmg.10106 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Jan 15;107(2):119-22. doi: 10.1002/ajmg.10106.