Hongell K, Knuutila S, Westermarck T
Clin Genet. 1978 Feb;13(2):237-40. doi: 10.1111/j.1399-0004.1978.tb04256.x.
Morphologically similar chromosome anomalies, 8p+, were found in two inmates of an institution for the mentally retarded. Analysis of the G-and R-banding patterns showed that the first subject had a duplication of region p2 of chromosome 8; the second subject had an insertion of an unidentified chromosome segment at 8p11. Both subjects were severely mentally retarded. The physical malformations were more severe in the second subject than in the first, who had only minor signs. The dermatoglyphics are recorded.
在一所智障机构的两名 inmates 中发现了形态学上相似的染色体异常,即 8 号染色体短臂增加(8p+)。对 G 带和 R 带模式的分析表明,第一个受试者 8 号染色体 p2 区域存在重复;第二个受试者在 8p11 处插入了一个不明染色体片段。两名受试者均严重智障。第二名受试者的身体畸形比第一名更严重,第一名只有轻微症状。记录了皮纹情况。