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A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype
Cytogenetic and Genome Research ( IF 1.7 ) Pub Date : 2017-01-01 , DOI: 10.1159/000481331
Letizia Camerota 1 , Mariabernarda Pitzianti , Diana Postorivo , Anna M Nardone , Claudio Ligas , Costanzo Moretti , Augusto Pasini , Francesco Brancati
Affiliation  

A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5. Metaphase FISH analysis with a set of dedicated probes defined its origin from the pericentromeric region of chromosome 5, including the NIPBL gene at 5p13.2. Such sSMCs, exceedingly rare in the literature, underlie proximal trisomy 5p. In order to delineate a core phenotype of proximal trisomy 5p, we compared our patient's features with those of 6 patients found in the literature with similar der(5) chromosomes. Furthermore, a dozen individuals with 5p13 (micro)duplication syndrome was compared and discussed. We identified highly distinctive craniofacial dysmorphism, obesity, and intellectual disability and/or autism spectrum disorder as typical features of proximal 5p trisomy. In the critical region (band 5p13), the NIPBL gene is likely to be a major determinant of the neurobehavioral phenotype, and its presence at the sSMC level may be relevant to predict clinical outcome.

中文翻译:

源自 5 号染色体的着丝粒周围区域的小型多余标记:病例报告和部分三体 5p 表型的描述

一名 17 岁女孩表现出明显的表型,主要表现为颅面畸形,包括不成比例的大、圆、拉长的脸;超视距;深陷的眼睛有短睑裂;肥胖症(BMI 37),以及具有高功能自闭症的神经精神疾病。来自外周血的出生后常规细胞遗传学分析显示具有 mos 47,XX,+mar[7]/46,XX[43] 核型的马赛克小额外标记染色体 (sSMC)。通过 cenM-FISH 技术,sSMC 被鉴定为 5 号染色体的环衍生物。使用一组专用探针的中期 FISH 分析确定其起源于 5 号染色体的着丝粒周围区域,包括 5p13.2 处的 NIPBL 基因。这种 sSMC 在文献中极为罕见,是近端 5p 三体性的基础。为了描绘近端三体性 5p 的核心表型,我们将我们患者的特征与文献中发现的具有相似 der(5) 染色体的 6 名患者的特征进行了比较。此外,还比较和讨论了十几个患有 5p13(微)重复综合征的个体。我们将高度独特的颅面畸形、肥胖和智力障碍和/或自闭症谱系障碍确定为近端 5p 三体性的典型特征。在关键区域(带 5p13),NIPBL 基因可能是神经行为表型的主要决定因素,其在 sSMC 水平的存在可能与预测临床结果有关。我们将高度独特的颅面畸形、肥胖和智力障碍和/或自闭症谱系障碍确定为近端 5p 三体性的典型特征。在关键区域(带 5p13),NIPBL 基因可能是神经行为表型的主要决定因素,其在 sSMC 水平的存在可能与预测临床结果有关。我们将高度独特的颅面畸形、肥胖和智力障碍和/或自闭症谱系障碍确定为近端 5p 三体性的典型特征。在关键区域(带 5p13),NIPBL 基因可能是神经行为表型的主要决定因素,其在 sSMC 水平的存在可能与预测临床结果有关。
更新日期:2017-01-01
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