Gamba Bruno Faulin, Richieri-Costa Antônio, Costa Silvia, Rosenberg Carla, Ribeiro-Bicudo Lucilene Arilho
Department of Genetics, Institute of Biosciences, University of São Paulo State, Botucatu, SP, Brazil.
Syndromology Division, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.
Mol Genet Genomics. 2015 Dec;290(6):2213-6. doi: 10.1007/s00438-015-1072-0. Epub 2015 Jun 4.
Terminal deletion in the short arm of chromosome 1 results in a disorder described as 1p36 deletion syndrome. The resulting phenotype varies among patients including mental retardation, developmental delay, sensorineural hearing loss, seizures, heart defects, and distinct facies. In the present case, we performed array-comparative genomic hybridization in a boy with multiple congenital malformations presenting some features overlapping the 1p36 deletion phenotype for whom chromosomal analysis did not reveal a terminal deletion in 1p. Results showed complex chromosome rearrangements involving the 1p36.33-p35.3 region. While the mechanism of origin of these rearrangements is still unclear, chromothripsis-a single catastrophic event leading to shattering chromosomes or chromosome regions and rejoining of the segments-has been described to occur in a fraction of cancers. The presence of at least 12 clustered breaks at 1p and apparent lack of mosaicism in the present case suggests that a single event like chromothripsis occurred. This finding suggests that chromothripsis is responsible for some constitutive complex chromosome rearrangements.
1号染色体短臂的末端缺失会导致一种被称为1p36缺失综合征的病症。由此产生的表型在患者中各不相同，包括智力迟钝、发育迟缓、感音神经性听力损失、癫痫发作、心脏缺陷和独特面容。在本病例中，我们对一名患有多种先天性畸形的男孩进行了阵列比较基因组杂交，该男孩呈现出一些与1p36缺失表型重叠的特征，而其染色体分析并未显示1p存在末端缺失。结果显示涉及1p36.33 - p35.3区域的复杂染色体重排。虽然这些重排的起源机制仍不清楚，但染色体碎裂——一种导致染色体或染色体区域破碎并使片段重新连接的单一灾难性事件——已被描述在一部分癌症中发生。在本病例中，1p处至少有12个成簇断裂且明显缺乏嵌合体现象，这表明发生了类似染色体碎裂的单一事件。这一发现表明染色体碎裂是某些组成性复杂染色体重排的原因。
