Ness Gro Oddveig, Lybaek Helle, Houge Gunnar
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Am J Med Genet. 2002 Nov 22;113(2):125-36. doi: 10.1002/ajmg.10593.
Comparative genomic hybridization (CGH) is a technique for detection of chromosomal imbalances in a genomic DNA sample. We here report the application of the recently developed method of high-resolution CGH on DNA samples from 66 children having various degrees of delayed psychomotor development with or without clear dysmorphic features and congenital malformations. In 5 of 50 patients with apparently normal karyotypes, a deletion or duplication was revealed by CGH. Only one of these cases had a subtelomeric rearrangement. In one of seven cases with a de novo apparently balanced translocation, deletions were found. In all nine cases where the origin of a marker chromosome or additional chromosomal material was difficult to determine, CGH gave a precise identification. The following findings were from cases having a deletion or duplication as the sole chromosomal imbalance; dup(2)(p16p21), del(4)(q21q21), del(6)(q14q15), del(6)(p12p12), dup(6)(q24qter), and dup(15)(q11q13). One case had dup(9)(p11pter) combined with a very small subtelomeric deletion on 6q. In our hands, CGH is highly useful not only for identifying known chromosomal imbalances, but also for finding elusive deletions or duplications in the large group of children with developmental delay with or without congenital abnormalities. In such cases, the diagnostic yield of CGH appears to be higher than what has been reported from subtelomeric FISH screening.
比较基因组杂交（CGH）是一种用于检测基因组DNA样本中染色体失衡的技术。我们在此报告了最近开发的高分辨率CGH方法在66名有不同程度精神运动发育迟缓且有或无明显畸形特征及先天性畸形的儿童DNA样本中的应用。在50名核型明显正常的患者中，有5名通过CGH检测出缺失或重复。这些病例中只有1例有亚端粒重排。在7例新发明显平衡易位的病例中，有1例发现了缺失。在所有9例难以确定标记染色体或额外染色体物质来源的病例中，CGH都给出了精确的鉴定结果。以下是仅存在缺失或重复作为唯一染色体失衡情况的病例结果：dup(2)(p16p21)、del(4)(q21q21)、del(6)(q14q15)、del(6)(p12p12)、dup(6)(q24qter)和dup(15)(q11q13)。1例有dup(9)(p11pter)并伴有6号染色体q臂上一个非常小的亚端粒缺失。在我们的研究中，CGH不仅对于识别已知的染色体失衡非常有用，而且对于在一大群有或无先天性异常的发育迟缓儿童中发现难以捉摸的缺失或重复也很有用。在这类病例中，CGH的诊断检出率似乎高于亚端粒荧光原位杂交（FISH）筛查所报告的结果。
