Pathological findings in the complete trisomy 9 syndrome: Three case reports and review of the literature

Joan C. Ferreres, Silvia Planas, Elena A. Martínez-Sáez, Teresa Vendrell, Vicente Peg, M. Teresa Salcedo, Santiago Ramón Y Cajal, Núria Torán

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Abstract

The term "complete trisomy 9" is used to indicate trisomy of the entire chromosome 9 without evidence of mosaicisms. It is a relatively rare chromosomal abnormality because the vast majority of affected pregnancies result in 1st trimester spontaneous abortions. The purpose of this paper is to delineate the complete trisomy 9 syndrome, based on autopsy findings. We performed an exhaustive review of the literature of complete forms of this trisomy with autopsy examination and added 3 new cases from our center with new findings not previously described. © 2008 Society for Pediatric Pathology.
Original languageEnglish
Pages (from-to)23-29
JournalPediatric and Developmental Pathology
Volume11
Issue number1
DOIs
Publication statusPublished - 1 Jan 2008

Keywords

  • Complete trisomy 9
  • Pathological findings
  • Prenatal diagnosis
  • Trisomy 9 syndrome

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