Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader-Willi and Angelman syndrome.
From among the many suspected patients with Prader-Willi (PWS) or Angelman (AS) syndromes received for diagnosis in a routine genetics laboratory, we present our protocol for the exclusion of a possible, rare imprinting centre (IC) defect. Deletion detection utilising two FISH probes-SNRPN within the IC, and another probe outside the IC, on the same suspension remaining from the cytogenetic harvest, provides a simple, quick and cost-effective system for exclusion of an IC defect, for patients with an abnormal methylation analysis.
Smith
Arabella
A
Department of Cytogenetics, Royal Alexandra Hospital for Children, Locked Bag 4001, Westmead, NSW 2145, Australia. ellies@chw.edu.au <ellies@chw.edu.au>
Robson
Lisa
L
St Heaps
Luke
L
D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D015335:Molecular Probes; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics
D015335:Molecular Probes