Wilson G N, Hieber V C, Schmickel R D
J Pediatr. 1978 Nov;93(5):783-8. doi: 10.1016/s0022-3476(78)81077-4.
Two unrelated children with features of the Cornelia de Lange syndrome, including mental retardation, growth retardation, glaucoma, and a similar facies, had duplications corresponding to bands q25 leads to q29 of chromosome 3. These patients were compared to others with duplications of chromosome 3 and to a large series of patients with Cornelia de Lange syndrome. Diseases that sometimes involve characteristic chromosomal changes but have normal chromosomes in other instances are discussed.
两名患有科妮莉亚·德朗热综合征特征的无关儿童，包括智力发育迟缓、生长发育迟缓、青光眼和相似面容，其3号染色体q25带至q29带存在重复。将这些患者与其他3号染色体重复的患者以及一大系列科妮莉亚·德朗热综合征患者进行了比较。还讨论了一些有时涉及特征性染色体变化但在其他情况下染色体正常的疾病。
