Laboratoire de cytogénétique prénatale niveau 3, Centre Hospitalier Universitaire de Caen, Avenue Côte de Nacre, 14033 Caen Cedex, France.
Am J Med Genet A. 2010 Jan;152A(1):185-90. doi: 10.1002/ajmg.a.33154.
Complex chromosomal rearrangements (CCRs) are uncommon and mainly occur de novo. We report here on a familial CCR involving chromosomes 2, 6, and 18. The propositus is a boy first referred because of growth delays, hypotonia, and facial anomalies, suggestive of deletion 18q syndrome. However, a cytogenetic family study disclosed a balanced CCR in three generations, which was detailed by FISH using BAC clones, and consisted of eight breakpoints with five insertional translocations (ITs). The propositus had a cryptic 18q deletion and a 6p duplication. Paternal transmission of this CCR was observed through three generations without meiotic recombination. Our investigation allowed us to provide porosities counseling and management of prenatal diagnosis for propositus cousin who carries this particular CCR.
复杂染色体重排（CCRs）较为罕见，主要为新生突变。我们在此报告一个涉及 2、6 和 18 号染色体的家族性 CCR。先证者为一男孩，因生长迟缓、肌张力低下和面部异常就诊，提示 18q 缺失综合征。然而，细胞遗传学家族研究揭示了三代人的平衡 CCR，通过使用 BAC 克隆的 FISH 详细分析，该 CCR 由 8 个断裂点和 5 个插入易位（ITs）组成。先证者存在隐匿性 18q 缺失和 6p 重复。该 CCR 通过三代人的非减数重组进行父系传递。我们的研究为携带该特定 CCR 的先证者表亲提供了易感性咨询和产前诊断管理。
