Blanc Pierre, Gouas Laetitia, Francannet Christine, Giollant Michel, Vago Philippe, Goumy Carole
CHU Clermont-Ferrand, Service de Biochimie Biologie Moléculaire, Clermont-Ferrand, France.
Am J Med Genet A. 2008 May 15;146A(10):1307-11. doi: 10.1002/ajmg.a.32278.
We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 --> 20qter and highlights the relevance of CGH for the detection of such rearrangements.
我们报告了一名3岁男孩，患有中度发育迟缓、颅面特征异常和室间隔缺损，病因是20号染色体长臂三体。细胞遗传学缺陷为20q远端的新发孤立性间质重复[dup(20)(q13.2q13.2)]。通过比较基因组杂交（CGH）检测到该重复，并通过阵列CGH进行了确认。对其他类似三体病例进行了回顾。这一新病例进一步明确了20q13→20qter三体的可识别表型，并突出了CGH在检测此类重排中的相关性。
