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

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.

• Authors: Joan C Ferreres, Sílvia Planas, Elena A Martínez-Sáez, Teresa Vendrell, Vicente Peg, M Teresa Salcedo, Santiago Ramón Y Cajal, Núria Torán
• Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (Pediatr Dev Pathol) Vol. 11 Issue 1 Pg. 23-9 ( 2008) ISSN: 1093-5266 [Print] United States
• PMID: 18237231 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (genetics, pathology)
• Adult
• Amniocentesis
• Autopsy
• Chromosome Disorders (diagnosis, pathology)
• Chromosomes, Human, Pair 9
• Fatal Outcome
• Female
• Fetal Diseases (diagnosis, pathology)
• Gestational Age
• Humans
• Male
• Pregnancy
• Trisomy (genetics, pathology)