Kroisel P M, Petek E, Wagner K
Institute of Medical Biology and Human Genetics, Graz, Austria.
Am J Med Genet. 2001 Aug 15;102(3):243-9. doi: 10.1002/ajmg.1443.
Here we describe five patients with Greig cephalopolysyndactyly syndrome (GCPS), including one pair of monozygotic twin boys with a de novo microdeletion involving the chromosomal band 7p13, where various clinical manifestations, in addition to GCPS, were recognized. Besides the twin pair, all patients are unrelated. Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with GCPS described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, seizures, muscle fiber anomalies, cardiac anomalies, hyperglycemia, and hirsutism. Our observations suggest that in all cases of atypical GCPS, the presence of a cytogenetically detectable microdeletion or a submicroscopic deletion of 7p13 should be suspected.
在此，我们描述了5例Greig头多指（趾）综合征（GCPS）患者，其中包括一对患有涉及染色体带7p13的新生微缺失的单卵双胞胎男孩，除GCPS外，还发现了各种临床表现。除这对双胞胎外，所有患者均无亲缘关系。由于目前报道的涉及7p13微缺失的GCPS患者数量较少，且缺乏明确的临床描述，我们重点关注那些通常与GCPS无关的症状，如中度精神运动发育迟缓、癫痫发作、肌纤维异常、心脏异常、高血糖和多毛症。我们的观察结果表明，在所有非典型GCPS病例中，均应怀疑存在细胞遗传学可检测到的7p13微缺失或亚显微缺失。
