Legius E, Wlodarska I, Selleri L, Evans G A, Wu R, Smet G, Fryns J P
Centre for Human Genetics, University Hospital, Leuven, Belgium.
Clin Genet. 1996 Apr;49(4):206-10. doi: 10.1111/j.1399-0004.1996.tb03288.x.
A 31-year-old female is reported with mild to moderate mental retardation, facial dysmorphy, congenital cardiopathy, and mild thrombocytopenia as the most important clinical findings. Chromosome analysis in lymphocytes showed a de novo dir dup (11)(q13.3-->14.2), by both G-banding and FISH techniques. Previously reported constitutional duplications of 11q are mostly the result of unbalanced translocations involving chromosome 11q, and are associated with a partial monosomy or trisomy of the translocation partner chromosome. In case of an unbalanced translocation it is not clear which clinical findings result from the chromosome 11 duplication and which result from the abnormality on the translocation partner chromosome. This is the first report on a constitutional duplication of chromosome region 11q13.3-->14.2 without involvement of other chromosomes.
据报道，一名31岁女性的主要临床症状为轻度至中度智力发育迟缓、面部畸形、先天性心脏病和轻度血小板减少症。淋巴细胞染色体分析通过G显带和FISH技术显示出一个新发的直接重复（11）（q13.3→14.2）。先前报道的11q染色体结构重复大多是涉及11q染色体的不平衡易位的结果，并与易位伙伴染色体的部分单体或三体相关。在不平衡易位的情况下，不清楚哪些临床症状是由11号染色体重复导致的，哪些是由易位伙伴染色体异常导致的。这是关于染色体区域11q13.3→14.2结构重复且未涉及其他染色体的首例报道。
