Department of Clinical Genetics, Academic Medical Centre, UVA, Amsterdam, The Netherlands.
Am J Med Genet A. 2011 May;155A(5):1066-72. doi: 10.1002/ajmg.a.33991. Epub 2011 Apr 4.
One of the recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome (593 kb; ∼29.5 Mb to ∼30.1 Mb), associated with developmental delay, autism spectrum disorder, epilepsy, and obesity. Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, which has been referred to as the atypical 16p11.2 deletion (220 kb; ∼28.74 Mb to ∼28.95 Mb). We describe three patients with this deletion and update the manifestations in two sibs who have been described as possibly new entity in this Journal in 1997 [Bakker and Hennekam (1997); Am J Med Genet 70:312-314] and were recently found to have the "atypical 16p11.2 deletion" as well. Patients show a developmental delay, behavioral problems, and unusual facial morphology (prominent forehead, downslanted, and narrow palpebral fissures), and some are obese. We suggest that this "atypical" deletion may turn out to become a microdeletion syndrome that will be recognizable in the future, or at least to show a phenotype that is recognizable in retrospect. As it may no longer be so "atypical," we suggest renaming the entity "distal 16p11.2 deletion," to distinguish it from the common proximal 16p11.2 deletion.
最近被识别的微缺失综合征之一是 16p11.2 缺失综合征（593kb；∼29.5Mb 至∼30.1Mb），与发育迟缓、自闭症谱系障碍、癫痫和肥胖有关。较少报道的是一个更小的 220kb 缺失，与这个 16p11.2 缺失相邻且更远端，被称为非典型 16p11.2 缺失（220kb；∼28.74Mb 至∼28.95Mb）。我们描述了三个患有这种缺失的患者，并更新了两个在该杂志上于 1997 年被描述为可能是新实体的同胞的表现[Bakker 和 Hennekam（1997）；Am J Med Genet 70:312-314]，最近也发现他们患有“非典型 16p11.2 缺失”。患者表现为发育迟缓、行为问题和异常的面部形态（突出的额头、倾斜和狭窄的睑裂），一些患者肥胖。我们认为这种“非典型”缺失可能会成为一种微缺失综合征，在未来可以被识别，或者至少可以在回顾性研究中表现出可识别的表型。由于它可能不再那么“非典型”，我们建议将该实体重新命名为“远端 16p11.2 缺失”，以将其与常见的近端 16p11.2 缺失区分开来。
