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首页> 外文期刊>American journal of medical genetics, Part A >Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

机译：9p四体综合征的临床和分子鉴定：12例新病例报告和文献复习

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Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric chromosome 9p (i(9p)), where the two 9p arms are linked by a single centromeric region, and pseudodicentric 9p (idic(9p)), where one active and one inactive centromere are linked together by a proximal segment of 9q that may incorporate euchromatic material. In living patients, i(9p) and idic(9p) are usually present in a mosaic state. Fifty-four cases, including fetuses, have been reported, of which only two have been molecularly characterized using array-CGH. Tetrasomy 9p leads to a variable phenotype ranging from multiple congenital anomalies with severe intellectual disability and growth delay to subnormal cognitive and physical developments. Hypertelorism, abnormal ears, microretrognathia and bulbous nose are the most common dysmorphic traits. Microcephaly, growth retardation, joint dislocation, scoliosis, cardiac and renal anomalies were reported in several cases. Those physical anomalies are often, but not universally, accompanied by intellectual disability. The most recurrent breakpoints, defined by conventional cytogenetics, are 9p10, 9q12 and 9q13. We report on 12 new patients with tetrasomy 9p (3 i(9p), 8 idic(9p) and one structurally uncharacterized), including the first case of parental germline mosaicism. All rearrangements have been characterized by DNA microarray. Based on our results and a review of the literature, we further delineate the prenatal and postnatal clinical spectrum of this imbalance. Our results show poor genotype-phenotype correlations and underline the need of precise molecular characterization of the supernumerary marker. (c) 2015 Wiley Periodicals, Inc.
机译：9p四体切割术是一个通用术语，用于描述包含两个9p臂拷贝的超染色体。存在两种变体：等中心染色体9p（i（9p）），其中两个9p臂通过一个着丝粒区域相连;和拟双中心染色体9p（idic（9p）），其中一个活动着丝粒和一个不活动着丝粒通过近端染色体连接在一起9q可能包含常色材料的部分。在活着的患者中，i（9p）和idic（9p）通常以镶嵌状态存在。据报道包括胎儿在内的54例，其中只有2例使用array-CGH进行了分子鉴定。四倍体9p导致可变的表型，从具有严重智力残疾和生长延迟的多个先天性异常到不正常的认知和身体发育。眼肌过度紧张，耳朵异常，微逆向性痴呆和球根鼻是最常见的畸形特征。在一些病例中报告了小头畸形，生长迟缓，关节脱位，脊柱侧弯，心脏和肾脏异常。这些身体异常通常（但并非普遍）伴有智力残疾。由常规细胞遗传学定义的最经常出现的断点是9p10、9q12和9q13。我们报告了12例9p四体性新患者（3 i（9p），8 idic（9p）和一个在结构上没有特征的患者），其中包括第一例父母种系镶嵌。所有重排均已通过DNA微阵列表征。根据我们的结果和文献综述，我们进一步描述了这种失衡的产前和产后临床情况。我们的研究结果表明基因型与表型之间的相关性较差，并强调了对数字标记进行精确分子表征的需求。 （c）2015年威利期刊有限公司

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