Ferreres Joan C, Planas Sílvia, Martínez-Sáez Elena A, Vendrell Teresa, Peg Vicente, Salcedo M Teresa, Ramón Y Cajal Santiago, Torán Núria
Department of Pathology and Genetics Unit, Hospital Universitari Vall d' Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
Pediatr Dev Pathol. 2008 Jan-Feb;11(1):23-9. doi: 10.2350/06-08-0143.1.
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.
术语“9号染色体完全三体”用于表示整条9号染色体三体且无嵌合体证据。这是一种相对罕见的染色体异常，因为绝大多数受影响的妊娠会导致孕早期自然流产。本文的目的是根据尸检结果描述9号染色体完全三体综合征。我们对有尸检检查的该三体完全型文献进行了详尽回顾，并补充了来自我们中心的3例有此前未描述新发现的新病例。
