title: 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.affiliation: Department of Pathology and Genetics Unit, Hospital Universitari Vall d' Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. jcferrer@vhebron.net
authors.forename: Joan C
authors.initials: JC
authors.lastname: Ferreres
authors.forename: Sílvia
authors.initials: S
authors.lastname: Planas
authors.forename: Elena A
authors.initials: EA
authors.lastname: Martínez-Sáez
authors.forename: Teresa
authors.initials: T
authors.lastname: Vendrell
authors.forename: Vicente
authors.initials: V
authors.lastname: Peg
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Salcedo
authors.forename: Santiago
authors.initials: S
authors.lastname: Ramón Y Cajal
authors.forename: Núria
authors.initials: N
authors.lastname: Torán
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D000649:Amniocentesis; D001344:Autopsy; D025063:Chromosome Disorders / Q000175:diagnosis / Q000473:pathology*; D002899:Chromosomes, Human, Pair 9; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000473:pathology*; D005865:Gestational Age; D006801:Humans; D008297:Male; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics / Q000473:pathology*