Centerwall W R, Morris J P
Hum Hered. 1975;25(6):442-52. doi: 10.1159/000152759.
A profoundly retarded girl with cyanotic congenital heart disease, recurrent myoclonic seizures, an external strabismus and not very unusual facial features was found to have a 47, XX chromosome complement. The extra chromosome is a small G-size chromosome with small projections extending from the ends of the long arms and no satellites observed on the short arms. By Geimsa-trypsin banding techniques this aberrant chromosome appears to be a partially deleted D 15 chromosome. A comparison of the clinical features is made with those described in the nine other reported specifically identifies cases of 'partial trisomy 15'. For clinical and chromosome morphology reasons, this was felt not to be trisomy in the G group nor an extra Y. We speculate that the long arm projections are satellites derived from a ring-type intrachromosomal translocation.
一名患有青紫型先天性心脏病、反复肌阵挛性癫痫发作、外斜视且面部特征无明显异常的重度智力发育迟缓女孩，其染色体组成为47, XX。额外的染色体是一条小的G组染色体，长臂末端有小的突起，短臂上未观察到随体。通过吉姆萨-胰蛋白酶显带技术，这条异常染色体似乎是一条部分缺失的15号染色体。将该临床特征与其他九例专门报道的“15号染色体部分三体”病例所描述的特征进行了比较。出于临床和染色体形态学原因，认为这既不是G组三体，也不是额外的Y染色体。我们推测长臂突起是来自环状染色体内易位的随体。
