PierreRobin序列(PRS)是一种重要的颅面异常,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相关的两种最常见的疾病,但是他们的频率是有争议的。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。该病例系列补充了对PRS基因诊断的性质和频率的全面文献综述。在我们的队列中,65%的患者有相关的异常;其中,56%的人建立了基因诊断。Stickler综合征是最常见的诊断,约占所有病例的11%,其次是TreacherCollins综合征(9%)。22q11.2缺失的频率为1.5%。染色体阵列,对72%的特发性PRS进行了相关异常,发现两例18q22→qter缺失,以前未报告与PRS相关的地区。对该人群中确定的细胞遗传学异常的回顾支持4q33-qter之间的关联,17q24.3、2q33.1和11q23染色体基因座和PRS。我们在PRS中发现了低频率的22q11.2缺失,这表明它在这种畸形中不太常见。我们的数据还表明,PRS患者中细胞遗传学异常的频率更高,以及与18q22→qter轨迹的潜在新联系。目前的发现强调了染色体微阵列在具有相关异常的PRS病例中的实用性,并建议应考虑延迟对明显孤立病例的检测。
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 18q22→qter 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 18q22→qter 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.