17q部分三体。核型：46，XY，der(21)，t(17;21)(q22;p13) 。
Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).
作者信息
Fryns J P, Parloir C, Van den Berghe H
出版信息
Hum Genet. 1979 Jul 18;49(3):361-4. doi: 10.1007/BF00569357.
PMID:478542
Abstract
A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22 replaced by 17qter),as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.
摘要
本文描述了一名15岁的重度智力发育迟缓男性，其因新发的17号染色体长臂/21号染色体短臂易位，导致17号染色体长臂部分末端三体（17q22被17qter取代）。鉴别性银染显示21号染色体的随体包含在易位染色体中。
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