13号染色体长臂缺失/环状13号染色体嵌合体

Niikawa N, Tamura T, Tomiyasu F, Kajii T

J Med Genet. 1980 Aug;17(4):316-9. doi: 10.1136/jmg.17.4.316.

A 2-month-old female infant with typical features of the 13q-syndrome was found to be a hitherto unreported mosaic consisting of 46,XX,del(13)(q22)-46,XX,r(13)(p13q22). Both of the 13q- and r(13) chromosomes were Ag N banding positive. Therefore, it was assumed that they had retained the satellite stalks. Two possible mechanisms were proposed for the genesis of the mosaicism. Firstly, the patients started with the 13q- chromosome, which then underwent breakage and reunion at both ends to form the r(13) chromosome. Secondly, the patients started with the r(13) chromosome, which reopened at or close to the joining point to form the 13q- chromosome.

一名具有典型13q综合征特征的2个月大女婴被发现是一种迄今为止未报告的嵌合体，由46,XX,del(13)(q22)-46,XX,r(13)(p13q22)组成。13q-和r(13)染色体的银染N带均为阳性。因此，推测它们保留了随体柄。针对这种嵌合体的发生提出了两种可能的机制。首先，患者起始于13q-染色体，该染色体随后在两端发生断裂和重聚，形成r(13)染色体。其次，患者起始于r(13)染色体，该染色体在连接点或其附近重新打开，形成13q-染色体。