Chromoanagenesis represents an extreme form of genomic rearrangements involving multiple breaks occurring on a single or multiple chromosomes. It has been recently described in both acquired and rare constitutional genetic disorders. Constitutional chromoanagenesis events could lead to abnormal phenotypes including developmental delay and congenital anomalies, and have also been implicated in some specific syndromic disorders. We report the case of a girl presenting with growth retardation, hypotonia, microcephaly, dysmorphic features, coloboma, and hypoplastic corpus callosum. Karyotype showed a de novo structurally abnormal chromosome 14q31qter region. Molecular characterization using SNP-array revealed a complex unbalanced rearrangement in 14q31.1-q32.2, on the paternal chromosome 14, including thirteen interstitial deletions ranging from 33 kb to 1.56 Mb in size, with a total of 4.1 Mb in size, thus suggesting that a single event like chromoanagenesis occurred. To our knowledge, this is one of the first case of 14q distal deletion due to a germline chromoanagenesis. Genome sequencing allowed the characterization of 50 breakpoints, leading to interruption of 10 genes including YY1 which fit with the patient's phenotype. This precise genotyping of breaking junction allowed better definition of genotype-phenotype correlations.

色彩发生代表了一种极端形式的基因组重排，涉及单个或多个染色体上发生的多个断裂。最近已在获得性和罕见的体质遗传疾病中进行了描述。体质性显色事件可能导致异常表型，包括发育延迟和先天性异常，并且还与某些特定的综合征有关。我们报道了一个女孩的情况，该女孩表现为发育迟缓，肌张力低下，小头畸形，畸形特征，淋巴瘤和发育不良的corp体。核型显示从头结构异常的染色体14q31qter区。使用SNP阵列的分子表征揭示了父系染色体14上14q31.1-q32.2中复杂的不平衡重排，包括13个间隙缺失，范围从33 kb到1.56 Mb，总共4.1 Mb，因此提示发生了类似色觉发生的单个事件。据我们所知，这是由于种系发色而导致的14q末端缺失的首例之一。基因组测序可表征50个断点，导致包括YY1在内的10个与患者表型相适应的基因被打断。断裂连接的精确基因分型可以更好地定义基因型与表型的相关性。