Ring chromosome 21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review

Chih Ping Chen*, Po Jen Cheng, Shuenn Dyh Chang, Yi Xuan Lee, Jin Chung Shih, Schu Rern Chern, Peih Shan Wu, Jun Wei Su, Yu Ting Chen, Adam Hwa Ming Hsieh, Teresa Hsiao Tien Chen, Li Feng Chen, Wayseen Wang

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

5 Scopus citations

Abstract

We present perinatal findings and molecular cytogenetic characterization of a prenatally detected sacrococcygeal teratoma associated with mosaic r(21). This is the first report of mosaic r(21) presenting with a fetal sacrococcygeal teratoma. We discuss cytogenetic abnormalities associated with fetal sacrococcygeal teratomas.

Original languageEnglish
Pages (from-to)111-116
Number of pages6
JournalGene
Volume522
Issue number1
DOIs
StatePublished - 10 06 2013

Keywords

  • 21q terminal deletion
  • Mosaicism
  • Prenatal diagnosis
  • Ring chromosome 21
  • Sacrococcygeal teratoma

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