Department of Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang, Liaoning Province 110004, China.
Gene. 2013 Dec 1;531(2):457-61. doi: 10.1016/j.gene.2013.08.084. Epub 2013 Sep 5.
Unstable, gene-rich pericentric regions have been associated with various structural aberrations including small supernumerary marker chromosomes (sSMCs). We hereby report on a new sSMC derived from chromosome 14, generating trisomy 14pter → q12 in a child with severe neurodevelopmental delay. The patient featured facial dysmorphism, generalized hypotonia, transverse palmar creases, structural brain abnormality, and severe cognitive and motor impairment. Literature review indicated this to be a unique case of sSMC 14 which was only composed of pter → q12, and the phenotype secondary to duplications of the similar region partially overlaps with the phenotype reported in this study. The genetic analysis on our case helps to better delineate karyotype-phenotype correlations between proximal trisomy 14 and associated clinical phenomena, and we also propose that the involved chromosomal regions may contain dosage-sensitive genes which are important for the development.
不稳定、基因丰富的着丝粒区域与各种结构异常有关，包括小额外标记染色体（sSMC）。我们在此报告了一个新的 sSMC，它来源于 14 号染色体，导致一个患有严重神经发育迟缓的儿童的 14pter → q12 三体。该患者具有面部畸形、全身肌张力低下、横向掌纹、结构性脑异常和严重的认知和运动障碍。文献回顾表明，这是一个独特的 sSMC 14 病例，它仅由 pter → q12 组成，由于相似区域的重复引起的表型与本研究中报道的表型部分重叠。我们的病例的遗传学分析有助于更好地区分近端 14 三体与相关临床现象之间的核型-表型相关性，我们还提出，所涉及的染色体区域可能含有剂量敏感基因，这些基因对发育很重要。
