Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder

ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

摘要：染色体异常是全球范围内多种先天性畸形的致病因素，其中部分与端粒/亚端粒（telomeric/subtelomeric）缺失相关。累及12号染色体端粒的异常较为罕见，目前文献中仅见少量涉及12q24.31区域缺失的报道；据我们所知，其中仅4例累及12q24.31-q24.33区域。本研究报道1例伴发孤独症谱系障碍（autism spectrum disorder）的12q24.31-q24.33带间质性缺失病例：研究对象为1名2岁男童，表现为全面性发育迟缓伴多发先天性畸形，经人类基因组CGH微阵列60K（Human Genome CGH Microarray 60K）检测，确诊为12q缺失综合征。本研究对现有相关文献进行了系统综述，将本次病例与既往报道的同类病例开展对比分析。上述详细分析有助于明确12q缺失的基因型/表型关联，可为该类缺失的精准诊断与预后评估提供重要参考。