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精神分裂症群体发病率0.5~1%。虽有家族倾向,但遗传类型复杂,非孟德尔式。特定的受累基因也未确定。本文报告一家族。首次提供了该病与基因组特定区域联系的线索。先证者是一例20岁男性,另一例患者是先证者的舅舅。临床表现符合ICD-9和DSM-Ⅳ-R的诊断标准。此外具有下列体征:前额突出,枕部扁平,眼距宽,耳异常,身材矮,中度肥胖,第四指(趾)骨短,部分并指(趾)。超声检查左肾异常,先证者可能是双肾,舅舅左肾缺如,小阴茎。细胞遗传学检查发现,二患者的一条1号染色体长臂皆有额外的染色体物质。先证
Schizophrenia population incidence of 0.5 to 1%. Although family tendencies, but the genetic type of complex, non-Mendelian. Specific genes involved are also not identified. This article reports a family. For the first time provided clues as to the association of the disease with specific regions of the genome. The proband is a 20-year-old male and the other is the uncle of the proband. Clinical manifestations meet the diagnostic criteria of ICD-9 and DSM-IV-R. In addition has the following signs: prominent forehead, occipital flat, wide eyes, abnormal ears, short stature, moderate obesity, the fourth finger (toe) bone short, part and toe (toe). Ultrasound examination of the left kidney anomaly, proband may be kidney, uncle left kidney absence, small penis. Cytogenetics revealed that there was extra chromosomal material in the long arm of chromosome 1 in both patients. First card