A Clinical Genetics-Driven Dual Diagnosis of Prader–Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL
August 2026
in “
Genes
”
Studysummary In this case study, mosaic maternal uniparental disomy of chromosome 15 was identified as the cause of Prader–Willi syndrome in a patient through combined genetic analyses, emphasizing that mosaicism might lead to missed diagnoses if only blood tests are used.
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