European Journal of Human Genetics - Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader–Willi syndrome. Skip to main content.

We report maternal uniparental disomy of chromosome 17 (mat UPD17) in a 2.5-year-old girl presenting infantile cystinosis. This patient was homozygous for the 57 kb deletion encompassing the CTNS ...