Voss R, Lerer I, Maftzir G, Sheinis M, Cohen M M
Am J Med Genet. 1982 Jun;12(2):131-9. doi: 10.1002/ajmg.1320120203.
An abnormal karyotype consisting of 48 chromosomes has been found in a 16-year-old boy with severe psychomotor retardation and congenital anomalies. The two extra chromosomes: a 15q - and a small metacentric marker appear as derivatives of chromosome 15(48, XY, + 15q -, + mar(15). The healthy father has a mosaic chromosome constitution 46, XY/47, XY, + mar(15) and this additional chromosome is also present in the propositus. It is suggested that the presence of the extra chromosome in the father's germ cells may play a role in the production of the additional 15q - chromosome responsible for the clinical syndrome of the propositus.
在一名患有严重精神运动发育迟缓及先天性异常的16岁男孩中，发现了一种由48条染色体组成的异常核型。两条额外的染色体：一条15号染色体长臂缺失（15q -）和一条小的中着丝粒标记染色体，表现为15号染色体的衍生染色体（48, XY, + 15q -, + mar(15)）。健康的父亲具有嵌合染色体组成46, XY/47, XY, + mar(15)，并且这条额外的染色体也存在于先证者体内。提示父亲生殖细胞中额外染色体的存在可能在导致先证者临床综合征的额外15号染色体长臂缺失的产生中起作用。
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