一段无法识别的长染色体外片段——可能是人类7号染色体长臂的重复。
A long unidentifiable extra chromosomal segment--a possible duplication of human 7q.
作者信息
Wahrman J, Cohen M M, Rosenmann A, Goitein R, Richler C, Dagan J
出版信息
Cytogenet Cell Genet. 1978;20(1-6):160-8. doi: 10.1159/000130848.
Limitation of current techniques in identifying extra chromosomal segments arising de novo is illustrated by a putative case of a duplication of the long arm of chromosome 7. The propositus, demonstrating multiple congenital anomalies and severe mental retardation, had a large extra segment of chromatin on chromosome 7q that was absent in his parents. The banding pattern of this segment resembled that of the long arm of chromosomes 7, 8, or 9. Various procedures indicated that the additional material did not include the secondary constriction of 9q. The phenotype of the propositus did not fit well with that of trisomy 8.
目前技术在识别新生的染色体外片段方面的局限性，可通过一个疑似7号染色体长臂重复的病例来说明。先证者表现出多种先天性异常和严重智力发育迟缓，其7号染色体长臂上有一大块额外的染色质片段，而其父母中不存在该片段。该片段的带型与7号、8号或9号染色体长臂的带型相似。各种检查程序表明，额外的物质不包括9号染色体长臂的次缢痕。先证者的表型与8三体并不完全相符。
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