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首页> 外文期刊>American journal of medical genetics, Part A >Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies
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Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

机译：一系列具有Pierre Robin序列的66例患者的临床，细胞遗传学和分子预后以及文献复习：22q11.2缺失的发生率低于其他染色体异常

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摘要

Pierre Robin sequence (PRS) is an important craniofacial anomaly that can be seen as an isolated finding or manifestation of multiple syndromes. 22q11.2 deletion and Stickler syndrome are cited as the two most common conditions associated with PRS, but their frequencies are debated. We performed a retrospective study of 66 patients with PRS and reviewed their genetic testing, diagnoses, and clinical findings. The case series is complemented by a comprehensive literature review of the nature and frequency of genetic diagnosis in PRS. In our cohort 65% of patients had associated anomalies; of these, a genetic diagnosis was established in 56%. Stickler syndrome was the most common diagnosis, comprising approximately 11% of all cases, followed by Treacher Collins syndrome (9%). The frequency of 22q11.2 deletion was 1.5%. Chromosome arrays, performed for 72% of idiopathic PRS with associated anomalies, revealed two cases of 18q22qter deletion, a region not previously reported in association with PRS. A review of the cytogenetic anomalies identified in this population supports an association between the 4q33-qter, 17q24.3, 2q33.1, and 11q23 chromosomal loci and PRS. We found a low frequency of 22q11.2 deletion in PRS, suggesting it is less commonly implicated in this malformation. Our data also indicate a higher frequency of cytogenetic anomalies in PRS patients with associated anomalies, and a potential new link with the 18q22qter locus. The present findings underscore the utility of chromosomal microarrays in cases of PRS with associated anomalies and suggest that delaying testing for apparently isolated cases should be considered. (c) 2016 Wiley Periodicals, Inc.
机译：皮埃尔·罗宾序列（PRS）是重要的颅面异常，可以看作是多种综合征的孤立发现或表现。 22q11.2缺失和Stickler综合征被认为是与PRS相关的两个最常见的疾病，但它们的发生频率存在争议。我们对66例PRS患者进行了回顾性研究，并回顾了他们的基因检测，诊断和临床发现。该病例系列得到了有关PRS遗传诊断的性质和频率的全面文献综述的补充。在我们的队列中，有65％的患者有相关异常;其中，有56％的人确定了基因诊断。斯蒂克勒综合征是最常见的诊断，约占所有病例的11％，其次是Treacher Collins综合征（9％）。 22q11.2删除的频率为1.5％。对72％的特发性PRS伴有异常进行的染色体检查显示了两个18q22qter缺失的病例，该区域先前未报道与PRS相关。对在此人群中发现的细胞遗传学异常的研究支持了4q33-qter，17q24.3、2q33.1和11q23染色体基因座与PRS之间的关联。我们发现PRS中22q11.2缺失的频率很低，表明它很少参与这种畸形。我们的数据还表明，在具有相关异常的PRS患者中，细胞遗传异常的频率更高，并且与18q22qter基因座可能存在新的联系。目前的发现强调了染色体微阵列在伴有相关异常的PRS病例中的实用性，并建议应考虑延迟对明显分离病例的检测。 （c）2016年威利期刊有限公司

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