Noronha Dutra A R, Mancini T I, Satomi Takeno S, Moysés Oliveira M, Kim C A, Alvarez Perez A B, Domenici Kulikowski L, Melaragno M I
Disciplina de Genética, Departamento de Morfologia e Genética, Universidade de São Paulo, São Paulo, Brasil.
Cytogenet Genome Res. 2012;138(1):1-4. doi: 10.1159/000339566. Epub 2012 Jul 10.
The presence of a supernumerary 18p isochromosome is a rare chromosomal abnormality that results in 18p tetrasomy. This is a report on the clinical, cytogenetic and molecular findings of 2 non-related patients with a supernumerary 18p isochromosome. Both patients present some features of the 18p tetrasomy syndrome (strabismus, low-set ears, long and narrow fingers and toes), but additional characteristics were also observed. Cytogenetic analysis, FISH, MLPA and SNP array techniques showed that one of the isochromosomes is symmetric and monocentric, while the other is asymmetric and dicentric, yet resulting in a similar tetrasomy of the 18pter-18p10 region, followed by a partial 18q11.2 trisomy, an unprecedented finding in the literature.
额外的18号染色体等臂染色体的存在是一种罕见的染色体异常，可导致18p四体综合征。本文报告了2例非亲缘关系的携带额外18号染色体等臂染色体患者的临床、细胞遗传学和分子学研究结果。两名患者均表现出18p四体综合征的一些特征（斜视、低位耳、手指和脚趾细长），但也观察到了其他特征。细胞遗传学分析、荧光原位杂交（FISH）、多重连接探针扩增（MLPA）和单核苷酸多态性（SNP）阵列技术显示，其中一条等臂染色体是对称的且为单中心，而另一条是不对称的且为双中心，但均导致18pter - 18p10区域出现相似的四体，随后是18q11.2部分三体，这是文献中前所未有的发现。
