Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R
Hum Genet. 1984;67(2):219-21. doi: 10.1007/BF00273006.
Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.
报告了两名患有11p15三体综合征且具有贝克威思-维德曼综合征特征的患者。第一名是一名女婴，患有巨人症、巨舌症、伴有脐疝的腹部肌张力减退、中度智力发育迟缓、畸形性泌尿系统疾病和房间隔缺损。11p15三体是由新发重复所致。第二名患者是一名死产儿（妊娠32 - 33周），有舌头异常、后膈膨升、主要是肾上腺的内脏充血。11p15三体是由父源t(4;11)(q33;p14)所致。结合细胞遗传学数据以及11p的基因组成，特别是胰岛素编码基因和威尔姆斯瘤易感性基因，对11p15三体与贝克威思-维德曼综合征的关联进行了讨论。
