Mosaic trisomy 14 in a newborn with multiple malformations: When chromosomal microarray is a clue to diagnosis

Smadar Eventov-Friedman*, Ayala Frumkin, Benjamin Bar-Oz, Annick Raas-Rothschild

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)459-462
Number of pages4
JournalIsrael Medical Association Journal
Issue number7
StatePublished - 1 Jul 2015


  • Chromosomal microarray analysis (CMA)
  • Coloboma of the eyelid
  • Mosaic trisomy 14
  • Pyloric stenosis

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