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

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Τίτλος: Incomplete trisomy 15 rescue associated with hypermethylation of the Prader-Willi critical region.
Συγγραφείς: Tseng YL; Department 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., Chen YC; Department of Obstetrics and Gynecology, Kuang-Tien General hospital No. 127, Sec. 7, Xiangshang Rd., Shalu Dist., Taichung City 433004, Taiwan. Electronic address: obgyn.ktgh@gmail.com.
Πηγή: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2026 Jul; Vol. 65 (4), pp. 789-793.
Τύπος έκδοσης: Case Reports; Journal Article
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE
Imprint Name(s): Publication: 2007- : Taipei, Taiwan : Elsevier
Original Publication: Hong Kong : Elsevier (Singapore)
Ιατρικοί όροι (MeSH): Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/diagnosis , Trisomy*/diagnosis , Trisomy*/genetics , Uniparental Disomy*/diagnosis , Uniparental Disomy*/genetics , DNA Methylation*, Chromosomes, Human, Pair 15/genetics ; Angelman Syndrome/genetics ; Angelman Syndrome/diagnosis ; Prenatal Diagnosis/methods ; Humans ; Pregnancy ; Female ; Adult ; Karyotyping ; Comparative Genomic Hybridization
Περίληψη: Objectives: To present a rare prenatal case of incomplete trisomy 15 rescue with hypermethylation in the Prader-Willi critical region and to emphasize the diagnostic challenges associated with discordant results among NIPT, chromosomal microarray, and karyotype, highlighting the critical role of methylation analysis in confirming the diagnosis.
Case Report: Our patient of 41-yea-old underwent NIPT showed trisomy 15 but low risk in PWS and Angelman syndrome. Subsequent karyotyping and CGH array provided discordant results possibly due to incomplete trisomy rescue. To clarify the diagnosis, MLPA was performed to confirm the hypermethylation of the Prader-Willi critical region, presenting as atypical PWS.
Conclusion: This case highlights the importance of MLPA test in the diagnosis workflow of atypical PWS caused by incomplete trisomy rescue. Early recognizing of atypical PWS is important due to its variable prognosis reported by current literatures.
(Copyright © 2026. Published by Elsevier B.V.)
Competing Interests: Conflicts of interest statement and funding/support statement The author(s) have no conflicts of interest relevant to this article.
Contributed Indexing: Keywords: Atypical Prader–Willi syndrome; Incomplete trisomy 15 rescue; Methylation-specific MLPA; Mosaic trisomy 15; Prenatal diagnosis; Uniparental disomy
Entry Date(s): Date Created: 20260626 Date Completed: 20260627 Latest Revision: 20260710
Update Code: 20260711
DOI: 10.1016/j.tjog.2025.10.017
PMID: 42362270
Βάση Δεδομένων: MEDLINE
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  Data: Incomplete trisomy 15 rescue associated with hypermethylation of the Prader-Willi critical region.
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  Data: <searchLink fieldCode="AU" term="%22Tseng+YL%22">Tseng YL</searchLink>; Department 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.<br /><searchLink fieldCode="AU" term="%22Chen+YC%22">Chen YC</searchLink>; Department of Obstetrics and Gynecology, Kuang-Tien General hospital No. 127, Sec. 7, Xiangshang Rd., Shalu Dist., Taichung City 433004, Taiwan. Electronic address: obgyn.ktgh@gmail.com.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>China (Republic : 1949- ) <i>NLM ID: </i>101213819 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1875-6263 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210284559%22">10284559 </searchLink><i>NLM ISO Abbreviation: </i>Taiwan J Obstet Gynecol <i>Subsets: </i>MEDLINE
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  Data: <i>Publication</i>: 2007- : Taipei, Taiwan : Elsevier<br /><i>Original Publication</i>: Hong Kong : Elsevier (Singapore)
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  Data: <searchLink fieldCode="MM" term="%22Prader-Willi+Syndrome%22">Prader-Willi Syndrome*</searchLink>/<searchLink fieldCode="MM" term="%22Prader-Willi+Syndrome+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Prader-Willi+Syndrome%22">Prader-Willi Syndrome*</searchLink>/<searchLink fieldCode="MM" term="%22Prader-Willi+Syndrome+diagnosis%22">diagnosis</searchLink> <br /><searchLink fieldCode="MM" term="%22Trisomy%22">Trisomy*</searchLink>/<searchLink fieldCode="MM" term="%22Trisomy+diagnosis%22">diagnosis</searchLink> <br /><searchLink fieldCode="MM" term="%22Trisomy%22">Trisomy*</searchLink>/<searchLink fieldCode="MM" term="%22Trisomy+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Uniparental+Disomy%22">Uniparental Disomy*</searchLink>/<searchLink fieldCode="MM" term="%22Uniparental+Disomy+diagnosis%22">diagnosis</searchLink> <br /><searchLink fieldCode="MM" term="%22Uniparental+Disomy%22">Uniparental Disomy*</searchLink>/<searchLink fieldCode="MM" term="%22Uniparental+Disomy+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22DNA+Methylation%22">DNA Methylation*</searchLink><br /><searchLink fieldCode="MH" term="%22Chromosomes%2C+Human%2C+Pair+15%22">Chromosomes, Human, Pair 15</searchLink>/<searchLink fieldCode="MH" term="%22Chromosomes%2C+Human%2C+Pair+15+genetics%22">genetics</searchLink> ; <searchLink fieldCode="MH" term="%22Angelman+Syndrome%22">Angelman Syndrome</searchLink>/<searchLink fieldCode="MH" term="%22Angelman+Syndrome+genetics%22">genetics</searchLink> ; <searchLink fieldCode="MH" term="%22Angelman+Syndrome%22">Angelman Syndrome</searchLink>/<searchLink fieldCode="MH" term="%22Angelman+Syndrome+diagnosis%22">diagnosis</searchLink> ; <searchLink fieldCode="MH" term="%22Prenatal+Diagnosis%22">Prenatal Diagnosis</searchLink>/<searchLink fieldCode="MH" term="%22Prenatal+Diagnosis+methods%22">methods</searchLink> ; <searchLink fieldCode="MH" term="%22Humans%22">Humans</searchLink> ; <searchLink fieldCode="MH" term="%22Pregnancy%22">Pregnancy</searchLink> ; <searchLink fieldCode="MH" term="%22Female%22">Female</searchLink> ; <searchLink fieldCode="MH" term="%22Adult%22">Adult</searchLink> ; <searchLink fieldCode="MH" term="%22Karyotyping%22">Karyotyping</searchLink> ; <searchLink fieldCode="MH" term="%22Comparative+Genomic+Hybridization%22">Comparative Genomic Hybridization</searchLink>
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  Label: Abstract
  Group: Ab
  Data: Objectives: To present a rare prenatal case of incomplete trisomy 15 rescue with hypermethylation in the Prader-Willi critical region and to emphasize the diagnostic challenges associated with discordant results among NIPT, chromosomal microarray, and karyotype, highlighting the critical role of methylation analysis in confirming the diagnosis.<br />Case Report: Our patient of 41-yea-old underwent NIPT showed trisomy 15 but low risk in PWS and Angelman syndrome. Subsequent karyotyping and CGH array provided discordant results possibly due to incomplete trisomy rescue. To clarify the diagnosis, MLPA was performed to confirm the hypermethylation of the Prader-Willi critical region, presenting as atypical PWS.<br />Conclusion: This case highlights the importance of MLPA test in the diagnosis workflow of atypical PWS caused by incomplete trisomy rescue. Early recognizing of atypical PWS is important due to its variable prognosis reported by current literatures.<br /> (Copyright © 2026. Published by Elsevier B.V.)
– Name: Abstract
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  Data: Conflicts of interest statement and funding/support statement The author(s) have no conflicts of interest relevant to this article.
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  Label: Contributed Indexing
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  Data: <i>Keywords: </i>Atypical Prader–Willi syndrome; Incomplete trisomy 15 rescue; Methylation-specific MLPA; Mosaic trisomy 15; Prenatal diagnosis; Uniparental disomy
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        Value: 10.1016/j.tjog.2025.10.017
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        Text: English
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        StartPage: 789
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      – SubjectFull: Chromosomes, Human, Pair 15 genetics
        Type: general
      – SubjectFull: Angelman Syndrome genetics
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      – SubjectFull: DNA Methylation
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      – TitleFull: Incomplete trisomy 15 rescue associated with hypermethylation of the Prader-Willi critical region.
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              Text: 2026 Jul
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