Baranzini S E, del Rey G, Nigro N, Szijan I, Chamoles N, Cresto J C
Programa de Neurobiología Molecular, Hospital de Clínicas José de San Martín, Facultad de Medicina, Universidad de Buenos Aires, Argentina.
Am J Med Genet. 1997 Jun 13;70(3):216-21.
The so-called Xp21 contiguous deletion syndrome or complex glycerol kinase deficiency (GKD) usually presents with classical Duchenne muscular dystrophy (DMD) or a milder dystrophic myopathy, adrenal hypoplasia, and GKD. A number of syndromic and nonsyndromic cases of agenesis of the corpus callosum (ACC) also map to that location. To date, none of the cases of complex GKD have been associated with ACC. Here, we report on a patient with a complex phenotype as a result of the Xp21 contiguous deletion syndrome in association with ACC. Biochemical, cytogenetic, and molecular analyses were performed to detect and establish the size of the genomic deletion. It is at least 3 million base pairs in length; however, exact limits could not be determined in the present study. Nevertheless, we suggest the presence of a primary gene involved in the embryogenesis of the corpus callosum between Xp21.1 and Xp22.11.
所谓的Xp21连续缺失综合征或复杂性甘油激酶缺乏症（GKD）通常表现为典型的杜氏肌营养不良症（DMD）或症状较轻的营养不良性肌病、肾上腺发育不全以及GKD。胼胝体发育不全（ACC）的一些综合征性和非综合征性病例也定位于该区域。迄今为止，复杂性GKD的病例均与ACC无关。在此，我们报告1例因Xp21连续缺失综合征并发ACC而表现出复杂表型的患者。进行了生化、细胞遗传学和分子分析以检测并确定基因组缺失的大小。其长度至少为300万个碱基对；然而，在本研究中无法确定确切界限。尽管如此，我们认为在Xp21.1和Xp22.11之间存在一个参与胼胝体胚胎发生的主要基因。
