Duplication of the distal 1q and 4p segments are both characterized by the presence of intellectual disability/neurodevelopmental delay and dysmorphisms. Here, we describe a male with a complex chromosome rearrangement (CCR) presenting with overlapping clinical findings between these 2 syndromes. In order to better characterize this CCR, classical karyotyping, FISH, and chromosomal microarray analysis were performed on material from the patient and his parents, which revealed an unbalanced karyotype with duplications at 1q41q43 and 4p15.2p14 in the proband. The rearrangements, which were derived from a maternal balanced karyotype, included an insertion of a segment from the long to the short arm of chromosome 1, a balanced translocation involving chromosomes 14 and 18, and an insertion of a segment from the short arm of chromosome 4 into the derived chromosome 14. This study aimed to better define the clinical history and prognosis of a patient with this rare category of chromosomal aberration. Our results suggest that the frequency of CCR in the general population may be underestimated; when balanced, they may not have a phenotypic effect. Moreover, they emphasize the need for cytogenetic techniques complementary to chromosomal microarray for proper genetic counseling.
Mol Syndromol

中文翻译：

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一个明显平衡的复杂染色体重排，涉及健康女性的 7 条断裂和 4 条染色体及其患病儿子的分离/重组

远端 1q 和 4p 段的重复均以智力残疾/神经发育迟缓和畸形的存在为特征。在这里，我们描述了一名患有复杂染色体重排 (CCR) 的男性，其临床表现在这两种综合征之间存在重叠。为了更好地表征这种 CCR，对患者及其父母的材料进行了经典的核型分析、FISH 和染色体微阵列分析，结果显示先证者的核型不平衡，在 1q41q43 和 4p15.2p14 处有重复。来自母体平衡核型的重排包括从染色体 1 的长臂到短臂插入一个片段，涉及染色体 14 和 18 的平衡易位，以及将 4 号染色体短臂的一段插入衍生的 14 号染色体。本研究旨在更好地确定患有这种罕见的染色体畸变类别的患者的临床病史和预后。我们的研究结果表明，一般人群中 CCR 的频率可能被低估了；当平衡时，它们可能没有表型效应。此外，他们强调需要与染色体微阵列互补的细胞遗传学技术来进行适当的遗传咨询。
摩尔综合症