Oncology Probes

Prader-Willi/Angelman SyndromePrader-Willi syndrome (PWS) and Angelmansyndrome (AS) are clinically distinct complexdisorders mapped to chromosome 15q11-q13. Theyboth have characteristic neurologic, developmental,and behavioral phenotypes plus other structural andfunctional abnormalities. However, the cognitiveand neurologic impairment is more severe inAS, including seizures and ataxia. The behavioraland endocrine disorders are more severe in PWS,including obsessive-compulsive symptoms andhypothalamic insufficiency. Both disorders canresult from microdeletion, uniparental disomy, oran imprinting center defect in 15q11-q13.MD Prader-Willi SNRPN (15q11) / PML (15q24)Prader-Willi syndrome (PWS) is a clinically distinct disorderincluding diminished fetal activity, obesity, hypotonia, mentalretardation, short stature, hypogonadotropic hypogonadism,strabismus, and small hands and feet.Approximately 70% of cases of PWS arise from paternaldeletion of the 15q11-q13 region including the gene SNRPN(small nuclear ribonucleoprotein polypeptide N). The PWSSNRPN region probe is optimized to detect copy numbers ofthe SNRPN gene region at 15q11. The PML (promyelocyticleukemia) gene specific DNA probe at 15q24 is included ascontrol probe.Cat.# KBI-40109 Prader-Willi SNRPN (15q11) / PML (15q24)D15S677SNRPN220 KBD15S631E15q11.2UBE3AD15S101515q24RH 54241PML200 KBD15S991Prader-Willi SNRPN (15q11) / PML (15q24) probe hybridized to anormal interphase/metaphase (2R2G).Literature:Knoll et al, 1989, Am J Med Genet, 32: 285-290.Ozcelik et al, 1992, Nat Genet, 2: 265-269.Ordering information Gene Region Tests Cat#MD Prader-Willi SNRP (15q11) PML (15q24) SNRPN 10 KBI-40109Microdeletion Probes75