Oncology Probes

Trisomy 18 – Edward SyndromeTrisomy 18 is caused by an extra chromosome 18 and usuallyconsists of mental retardation, small birth size, and manydevelopmental anomalies, including severe microcephaly,prominent occiput, low-set malformed ears, and a characteristicpinched facial appearance. Trisomy 18 occurs 1 in 6000 livebirths, but spontaneous abortions are common. More than95% of affected children have complete trisomy 18. Theextra chromosome is almost always maternally derived, andadvanced maternal age increases risk.Cat.# KBI-20018-B SE 18 (D18Z1)Sex Chromosome AbnormalitiesChromosomal abnormalities involving the X and Y chromosome(sex chromosomes) are slightly less common than autosomalabnormalities and are usually much less severe in their effects.The high frequency of people with sex chromosome aberrationsis partly due to the fact that they are rarely lethal conditions.• Turner syndrome occurs when females inherit only one Xchromosome – their genotype is X0.• Metafemales or triple-X females, inherit three X chromosomes– their genotype is XXX or more rarely XXXX or XXXXX.• Klinefelter syndrome males inherit one or more extra Xchromosomes – their genotype is XXY or more rarely XXXY,XXXXY, or XY/XXY mosaic.• XYY syndrome males inherit an extra Y chromosome – theirgenotype is XYY.SE 18 (D18Z1) probe hybridized to a normal metaphaseshowing two blue signals (2B).The chromosome 18 specific Satellite Enumeration (SE 18)probe (D18Z1) is optimized to detect copy numbers ofchromosome 18 at 18p11-18q11 on uncultured amniotic cells.In all PN combinations the 18 SE centromeric DNA probe isoffered direct-labeled in blue with PlatinumBright415.Other combinationsThe chromosome X specific SE probe (DXZ1) is optimizedto detect copy numbers of chromosome X at Xp11-Xq11 onuncultured amniotic cells. The chromosome Y specific SE probe(DYZ3) is optimized to detect copy numbers of chromosomeY at Yp11-Yq11 on uncultured amniotic cells. In all PrenatalProbes combinations the X SE centromeric DNA probe is offereddirect-labeled in green with PlatinumBright495.Technical informationIn most Prenatal Probes combinations the Y SE centromeric DNAprobe is offered direct-labeled in red with PlatinumBright550,except for the KBI-40008 where the Y SE is labeled in blue withPlatinumBright415. All prenatal probes are in a Ready-to-Use formore convenience. This format still allows adding of a SE 18 probe.Ordering informationDescription Color Tests Cat#PN 13 (13q14) / 21 (21q22)probe hybridized to a normalinterphase (2R2G).PloidyScreen (21, X, Y) probehybridized to a normal malemetaphase (2R1G1B).PN 13 (13q14) green 10 KBI-40001PN 21 (21q22) red 10 KBI-40002PN 13 (13q14) / 21 (21q22) green/red 10 KBI-40003SE 18 (D18Z1) 5x conc blue 10 KBI-20018-BSE X (DXZ1) / SE Y (DYZ3) green/red 10 KBI-20030SE 7 (D7Z1) / SE 8 (D8Z1) red/green 10 KBI-20031SE (X,Y,18) green/red/blue 10 KBI-20032PrenatScreen (13/21, X/Y18) green/red/blue 10 KBI-40005PrenatScreen (13/21, X/Y18) green/red/blue 30 KBI-40006PrenatScreen (13/21, X/Y18) green/red/blue 50 KBI-40007PloidyScreen (21, X, Y) red/green/blue 20 KBI-40008Prenatal Probes69