因新发13/13易位伴随后续分裂导致的13三体嵌合体。核型：46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11)
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).
作者信息
Fryns J P, Casaer P, Van den Berghe H
出版信息
Hum Genet. 1979 Jan 25;46(2):237-41. doi: 10.1007/BF00291927.
PMID:422207
Abstract
A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX, - 13,+t(13;13)(p11;q11)/46,XX,del(13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromosome.
摘要
一名患有多种畸形的严重智力迟钝儿童被发现呈现出嵌合核型46,XX, - 13,+t(13;13)(p11;q11)/46,XX,del(13)(p11)，这可能源于亲代配子中13号染色体与13号染色体的新生易位，随后易位染色体发生合子后分裂。
Zotero 插件