Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome

Lisa Karger, Wahab A. Khan, Rafaela Calabio, Ram Singh, Bixia Xiang, Arvind Babu, Ninette Cohen, Amy C. Yang, Stuart A. Scott

Research output: Contribution to journalLetterpeer-review

6 Scopus citations
Original languageEnglish (US)
Pages (from-to)1436-1439
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
StatePublished - May 2017
Externally publishedYes


  • Prader–Willi syndrome
  • STRC
  • chromosome 15
  • deafness-infertility syndrome
  • uniparental disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this