A Child with Angelman Syndrome and Trisomy 13 Findings Due to Associated Paternal UPD 15 and Segmental UPD 13

Anne Chun Hui Tsai, Tamra Gibby, Linda Beischel, Loris McGavran, John P. Johnson

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

A child with Angelman syndrome, cutis aplasia, cleft palate, and congenital microform cleft lip, born to a father with a Robertsonian translocation 13;15 is described. Molecular studies using polymorphic markers on chromosomes 15 and 13 showed paternal uniparental disomy (UPD) 15 and segmental UPD 13.

Original languageEnglish (US)
Pages (from-to)208-212
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume126 A
Issue number2
StatePublished - Apr 15 2004

Keywords

  • Angelman syndrome
  • Segmental
  • Trisomy 13
  • UPD 13 and UPD 15

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A Child with Angelman Syndrome and Trisomy 13 Findings Due to Associated Paternal UPD 15 and Segmental UPD 13'. Together they form a unique fingerprint.

  • Cite this

    Tsai, A. C. H., Gibby, T., Beischel, L., McGavran, L., & Johnson, J. P. (2004). A Child with Angelman Syndrome and Trisomy 13 Findings Due to Associated Paternal UPD 15 and Segmental UPD 13. American Journal of Medical Genetics, 126 A(2), 208-212.