Children or adults whose prior laboratory studies are inconsistent with their clinical characteristics. Pregnancies at risk due to a known translocation or imprinting mutation. Pregnancies at low risk where added reassurance is indicated. 5 Patients with PWS have only a 4.2 kb band, patients with AS a 0.9 kb band. Positive individuals have a deletion at 15q11-13.
Positive individuals exhibit markers corresponding to one or both homologs from a parent.
New insights reveal complex mechanisms involved in genomic imprinting. Holm VA et al. Consensus diagnostic criteria. Consensus for diagnostic criteria. Buiting K et al.