Prader-Willi SNRPN (15q11) / PML (15q24) probe hybridized to a normal interphase/metaphase (2R2G).
Prader-Willi SNRPN (15q11) / PML (15q24) probe hybridized to a normal interphase/metaphase (2R2G).
IVD SNRPN/PML
Prader-Willi Syndrome (PWS) is a clinically distinct disorder including diminished fetal activity, obesity, hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. Approximately 70% of cases of PWS arise from paternal deletion of the 15q11-q13 region including the gene SNRPN (small nuclear ribonucleoprotein polypeptide N). The PWS SNRPN region probe is optimized to detect copy numbers of the SNRPN gene region at 15q11. The PML (promyelocytic leukemia) gene specific FISH probe at 15q24 is included as control probe.
References: Knoll et al, 1989, Am. J. Med. Genet., 32; 285-290. Ozcelik et al, 1992, Nat. Genet., 2; 265-269.
