Jacobsen syndrome (MIM #147791) is a rare multisystem genomic disorder involving craniofacial abnormalities, intellectual disability, other neurodevelopmental defects, and terminal truncation of chromosome 11q, typically deleting ~170 to >340 genes. We describe the first case of Jacobsen syndrome caused by congenital chromoanasynthesis, an extreme form of complex chromosomal rearrangement. Six duplications and five deletions occurred on one copy of chromosome 11q with microhomology signatures in the breakpoint junctions, indicating an all‐at‐once replication‐based rearrangement mechanism in a gametocyte or early post‐zygotic cell. Eighteen genes were deleted from the Jacobsen region, including KIRREL3, which is associated with intellectual disability.

中文翻译：

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彩色合成是雅各布森综合症的原因。

雅各布森综合症（MIM＃147791）是一种罕见的多系统基因组疾病，涉及颅面异常，智力残疾，其他神经发育缺陷和11q号染色体的末端截断，通常会缺失〜170至> 340个基因。我们描述了由先天性染色体合成（复杂的染色体重排的一种极端形式）引起的Jacobsen综合征的第一例。一份拷贝在断点连接处具有微同源性特征的11q染色体上发生了6次重复和5次缺失，表明配子细胞或合子后早期细胞一次基于复制的重排机制。从雅各布森地区删除了18个基因，包括与智力障碍有关的KIRREL3。