DNA: deoxyribonucleic acid; SNRPN: small nuclear ribonucleoprotein polypeptide N gene; PWS: Prader-Willi syndrome; c/w: consistent with this diagnosis; IC: imprinting center; MLPA: multiplex ligation-dependent probe amplification; FISH: fluorescence in situ hybridization; SNPs: single-nucleotide polymorphisms.
* FISH can also be used but is not preferred; FISH can diagnose deletion without detail of size.
¶ Uniparental disomy analysis is ideally performed with parental karyotype but can also be done with microsatellite probes or SNPs of parents and child.Do you want to add Medilib to your home screen?