PDF(Pubmed)
Abstract：
Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development disorder including intellectual disability. The heterozygous 5 Mb-microdeletion was characterized by an array CGH (Comparative Genomic Hybridization) analysis. In the past two decades, nine patients with microdeletions in this region have been identified by array CGH analysis and were reported in the literature. All these patients show psychomotor development disorder and outer and/or inner ear anomalies. In addition, most of the patients have mild to severe intellectual disability and show facial malformations. We reviewed the literature on PubMed and OMIM using the gene/loci names as search terms in an attempt to identify correlations between genes located within the heterozygous microdeletion and the clinical phenotype of the patient, in order to define a recognizable phenotype for the 2p11.2p12 microdeletion syndrome. We discuss additional symptoms that are not systematically present in all patients and contribute to a heterogeneous clinical presentation of this microdeletion syndrome.
摘要：
2号染色体短臂上p11.2区域的染色体异常与发育迟缓有关，智力残疾,面部异常,耳朵异常,骨骼和生殖器畸形。在这里，我们描述了在p11.2-p12区域的2号染色体短臂上有从头间质杂合微缺失的患者。他表现出面部畸形，其特征是鼻子的根部宽且低，耳朵突出。随访期间的临床检查显示先天性摆动性眼球震颤，视力下降和精神运动发育障碍，包括智力障碍。通过阵列CGH(比较基因组杂交)分析表征杂合5Mb微缺失。在过去的二十年里，已经通过阵列CGH分析确定了9例该区域微缺失的患者,并在文献中进行了报道.所有这些患者均表现为精神运动发育障碍和外耳和/或内耳异常。此外,大多数患者患有轻度至重度智力残疾，并表现出面部畸形。我们使用基因/基因座名称作为搜索词回顾了PubMed和OMIM的文献，试图确定位于杂合微缺失内的基因与患者临床表型之间的相关性。为了定义2p11.2p12微缺失综合征的可识别表型。我们讨论了并非所有患者都系统存在的其他症状，并导致这种微缺失综合征的异质性临床表现。
