畸形胎儿中的8号染色体三体
8p trisomy in a malformed foetus.
作者信息
Fryns J P, Petit P, Moerman F, Cassiman J J, van den Berghe H
出版信息
Ann Genet. 1982;25(3):162-3.
PMID:6982667
Abstract
A 20-week-old foetus with 8p trisomy, as the unbalanced product of a maternal 7q/8p translocation (karyotype: 46,XX,t(7;8)(q34,p12) is reported. Internal malformations include agenesis of the gall-bladder, left heart hypoplasia and pancreas annulare. Moreover, histologic examination revealed a "neuroblastoma in situ". The possible etiologic relationship between the neuroblastoma and the chromosomal abnormality is briefly discussed.
摘要
一名患有8号染色体三体的20周龄胎儿，是母亲7号染色体长臂/8号染色体短臂易位的不平衡产物（核型：46,XX,t(7;8)(q34,p12)），现予以报道。内部畸形包括胆囊缺如、左心发育不全和环状胰腺。此外，组织学检查发现了“原位神经母细胞瘤”。本文简要讨论了神经母细胞瘤与染色体异常之间可能的病因学关系。
Zotero 插件