Turleau C, de Grouchy J, Chavin-Colin F, Roubin M
Ann Genet. 1977 Sep;20(3):214-6.
A patient with distal 15q trisomy resulting from malsegregation of a maternal t(13;15)(q33;q21.2) showed the following symptoms: micro-dolichocephaly, palpebral fissures slightly oriented downwards and outwards, a large nose, pronounced micrognathia, prominent authelices, ligamental abnormalities, osseous malformations evocative of diastrophic dwarfism, severe congenital heart defect, and profound encephalopathy. He died at five months of age. This observation is compared with two others from the literature.
一名因母亲的t(13;15)(q33;q21.2)错误分离导致15号染色体长臂末端三体的患者表现出以下症状：小头长头畸形、睑裂略向下向外倾斜、鼻子大、明显的小颌畸形、耳廓突出、韧带异常、提示骨发育不全性侏儒症的骨骼畸形、严重的先天性心脏缺陷和严重脑病。他在五个月大时死亡。该观察结果与文献中的另外两个病例进行了比较。
