Pathological findings in the complete trisomy 9 syndrome: three case reports and review of the literature.
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.
Ferreres
Joan C
JC
Department of Pathology and Genetics Unit, Hospital Universitari Vall d' Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. jcferrer@vhebron.net
Planas
Sílvia
S
Martínez-Sáez
Elena A
EA
Vendrell
Teresa
T
Peg
Vicente
V
Salcedo
M Teresa
MT
Ramón Y Cajal
Santiago
S
Torán
Núria
N
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*