Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, WA 98122, USA.
Am J Med Genet A. 2013 May;161A(5):1110-6. doi: 10.1002/ajmg.a.35923.
We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792 Kb to 1.0 Mb and included a common region arr [hg19] 19p13.3 (3,814,392-4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non-coding RNA's MIR637 and SNORDU37. The patient phenotypes were compared with three previous single patient reports with similar interstitial 19p13.3 deletions and six additional patients from the DECIPHER and ISCA databases to determine if a common haploinsufficient phenotype for the region can be established.
我们呈现了三位通过高分辨率 SNP 微阵列分析鉴定的 19p13.3 重叠性染色体片段缺失的患者。这三位患者具有相似的表型特征，包括智力障碍或发育迟缓、结构性心脏异常、头部相对于身高和体重较大或大头畸形，以及轻微的面部异常。缺失大小从 792 Kb 到 1.0 Mb 不等，包括一个常见的区域 arr [hg19] 19p13.3（3,814,392-4,136,989），其中包含八个基因：ZFR2、ATCAY、NMRK2、DAPK3、EEF2、PIAS4、ZBTB7A、MAP2K2，以及两个非编码 RNA：MIR637 和 SNORDU37。我们将患者的表型与之前三个具有类似的 19p13.3 中间缺失的单一患者报告以及 DECIPHER 和 ISCA 数据库中的六个额外患者进行了比较，以确定该区域是否可以建立一个共同的杂合不足表型。
