Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Am J Med Genet A. 2012 Oct;158A(10):2551-6. doi: 10.1002/ajmg.a.35621. Epub 2012 Sep 10.
Jacobsen syndrome (JS) is a rare contiguous gene disorder characterized by a deletion within the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. The clinical findings include characteristic dysmorphic features, growth and psychomotor delays and developmental anomalies involving the brain, eyes, heart, kidneys, immune, hematologic, endocrine, and gastrointestinal systems. The majority of cases are due to a terminal deletion of 11q; however interstitial deletions have also been reported. We report on a child with clinical manifestations consistent with JS who had a 2.899 Mb interstitial deletion at 11q24.2-q24.3 which is the smallest interstitial deletion reported so far to our knowledge. This deletion includes the KIRREL3 gene, and given our patient's history of neurocognitive delay and autism spectrum disorder, it raises the possibility that this gene is a candidate for the social and expressive language delay observed in our patient.
雅各布森综合征（JS）是一种罕见的连续基因疾病，其特征是 11 号染色体长臂远端部分缺失，大小为 7 至 20Mb。临床表现包括特征性的畸形特征、生长和精神运动发育迟缓以及涉及大脑、眼睛、心脏、肾脏、免疫、血液、内分泌和胃肠道系统的发育异常。大多数病例是由于 11q 的末端缺失引起的；然而，也有报道称存在中间缺失。我们报告了一例临床表现符合 JS 的儿童，其在 11q24.2-q24.3 处存在 2.899Mb 的中间缺失，这是迄今为止我们所知的最小的中间缺失。该缺失包括 KIRREL3 基因，鉴于我们患者的神经认知发育迟缓病史和自闭症谱系障碍，这增加了该基因是导致我们患者观察到的社交和表达语言迟缓的候选基因的可能性。
