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Incomplete trisomy 15 rescue associated with hypermethylation of the Prader-Willi critical region

Yung-Ling Tseng1, Ying-Chung Chen2

  • 1Department of Education, Kuang Tien General Hospital, Taichung, Taiwan; Department of Obstetrics and Gynecology, Kuang-Tien General hospital No. 127, Sec. 7, Xiangshang Rd., Shalu Dist., Taichung City 433004, Taiwan.

Taiwanese Journal of Obstetrics & Gynecology
|June 26, 2026
PubMed
Abstract

Insights

This study details a rare prenatal case of incomplete trisomy 15 rescue, leading to atypical Prader-Willi syndrome (PWS). Methylation analysis was crucial for diagnosis due to conflicting results from other genetic tests.

Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Molecular Biology

Background:

  • Trisomy 15 rescue is a rare chromosomal abnormality.
  • Prader-Willi syndrome (PWS) is typically caused by a deletion or uniparental disomy of chromosome 15.
  • Atypical PWS can arise from complex genetic mechanisms.
Keywords:
Atypical Prader–Willi syndromeIncomplete trisomy 15 rescueMethylation-specific MLPAMosaic trisomy 15Prenatal diagnosisUniparental disomy

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