Student Scientific Society, Laboratory of Genetic Diagnostics, Medical University of Lublin, Gębali 6, 20-093, Lublin, Poland.
Department of Cancer Genetics With Cytogenetics Laboratory, Medical University of Lublin, Radziwiłłowska 11, 20-080, Lublin, Poland.
BMC Med Genomics. 2021 Mar 10;14(1):76. doi: 10.1186/s12920-021-00929-8.
16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare among the general population, it is one of the serious known genetic aetiologies of obesity and autism spectrum disorder.
This study presents three cases of deletions within the 16p11.2 region. Every child had mild variable craniofacial abnormalities, hand or foot anomalies and developmental and language delays. The first proband had obesity, epilepsy, moderate intellectual disability, aphasia, motor delay, hyperinsulinism, and café au lait spots. The second proband suffered from cardiac, pulmonary, and haematological problems. The third proband had motor and language delays, bronchial asthma, and umbilical hernia. Although each patient presented some features of the syndrome, the children differed in terms of their clinical pictures. Genetic diagnosis of 16p11.2 microdeletion syndrome was made in children at different ages based on multiplex ligation probe-dependent amplification analysis and/or microarray methods.
Our reports allow us to analyse and better understand the biology of 16p11.2 microdeletion throughout development. However, the variability of presented cases supports the alternate conclusion to this presented in available literature regarding 16p11.2 deletion, as we observed no direct cause-and-effect genotype/phenotype relationships. The reported cases indicate the key role of the interdisciplinary approach in 16p11.2 deletion diagnostics. The care of patients with this anomaly is based on regular health assessment and adjustment of nervous system development therapy.
16p11.2 微缺失是一种已知的染色体异常，主要与神经认知发育迟缓、肥胖易感性和可变的发育不良有关。尽管这种缺失在普通人群中相对较少，但它是肥胖和自闭症谱系障碍的已知严重遗传病因之一。
本研究介绍了三个 16p11.2 区域缺失的病例。每个孩子都有轻度的可变颅面异常、手或脚异常以及发育和语言迟缓。第一个先证者有肥胖、癫痫、中度智力残疾、失语、运动延迟、高胰岛素血症和咖啡牛奶斑。第二个先证者患有心脏、肺部和血液问题。第三个先证者有运动和语言延迟、支气管哮喘和脐疝。虽然每个患者都表现出该综合征的一些特征，但这些孩子在临床表现上有所不同。根据多重连接探针依赖扩增分析和/或微阵列方法，在不同年龄的儿童中做出了 16p11.2 微缺失综合征的基因诊断。
我们的报告使我们能够在整个发育过程中分析和更好地理解 16p11.2 微缺失的生物学。然而，所呈现病例的可变性支持了现有文献中对 16p11.2 缺失的另一种结论，因为我们没有观察到直接的基因型/表型因果关系。所报告的病例表明，多学科方法在 16p11.2 缺失诊断中的关键作用。对患有这种异常的患者的护理基于定期的健康评估和神经系统发育治疗的调整。
