Stankiewicz P, Korniszewski L, Bocian E, Stańczak H
Zakład Genetyki Instytutu Matki i Dziecka w Warszawie.
Pediatr Pol. 1996 Mar;71(3):241-5.
A reciprocal constitutive 11;22 translocation is the most frequent, non Robertsonian translocation in man. We describe a case of partial trisomy 11q and 22q in a child with facial dysmorphy, hypotonia, heart failure, cryptorchism and psychomotor retardation. A marker chromosome was found in this child. Chromosome analysis with the fluorescence in situ hybridization, FISH technique showed that this marker chromosome was the product of 3:1 mejotic segregation of maternal (11;22) balanced translocation. Routine cytogenetic problems with identification of marker chromosomes can now successfully be solved with the FISH technique. The presented case clearly demonstrates the diagnostic usefulness of this newest method of cytogenetic analysis.
相互易位性11;22易位是人类中最常见的非罗伯逊易位。我们描述了一例患有面部畸形、肌张力减退、心力衰竭、隐睾症和精神运动发育迟缓的儿童，其存在11q和22q部分三体。在该儿童中发现了一条标记染色体。采用荧光原位杂交（FISH）技术进行染色体分析显示，这条标记染色体是母源性（11;22）平衡易位减数分裂3:1分离的产物。现在，利用FISH技术可以成功解决标记染色体鉴定方面的常规细胞遗传学问题。本病例清楚地证明了这种最新细胞遗传学分析方法的诊断价值。
