Obersztyn E, Stankiewicz P, Bocian E, Stańczak H, Mazurczak T
Zakład Genetyki Instytutu Matki i Dziecka w Warszawie.
Pediatr Pol. 1996 Mar;71(3):247-52.
The case of a 1.5 year old girl with clinical traits of craniofacial dysmorphy, hypotonia, polydactyly and moderate mental retardation is presented. Routine cytogenetic study revealed the presence of a large additional chromosomal fragment associated with the nucleolus organizing region on one of chromosomes 13. The banding pattern suggested the additional fragment was a part of the long arm of this chromosome. The set of clinical symptoms was only partly consistent with those characteristic for trisomy 13q2 and 3. Application of the FISH technique with a chromosome 13 specific library enabled final confirmation of the origin of the extra chromosome fragment from the long arm of chromosome 13. The presented case proves the usefulness of the FISH technique for the diagnosis of chromosomal aberrations and for adequate clinical interpretation of cytogenetic results.
本文介绍了一名1.5岁女童的病例，该女童具有颅面畸形、肌张力减退、多指畸形和中度智力发育迟缓等临床特征。常规细胞遗传学研究发现，在13号染色体之一上存在一个与核仁组织区相关的大型额外染色体片段。带型分析表明，该额外片段是这条染色体长臂的一部分。这组临床症状仅部分与13q2和3三体的特征相符。使用13号染色体特异性文库进行荧光原位杂交（FISH）技术，最终证实了额外染色体片段起源于13号染色体长臂。该病例证明了FISH技术在诊断染色体畸变以及对细胞遗传学结果进行充分临床解释方面的有用性。
