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患者,男,13岁。表型轻度异常(反先天愚型样的斜睑裂、斜视,手指呈纺锤型),严重智能低下,癫痫样大发作和举止异常。双亲健康,患儿出生时,父龄42岁,母龄34岁。患儿举止异常表现在:发作性好动、过度运动、注意力持续时间短、具有主动性侵犯他人行为、性格孤僻、偶尔大便不能自制。无过度摄食现象。细胞遗传学检查发现患儿携带一条额外的标记染色体(核型:47,XY,+mar),该mar比一条G组染色体稍长。经多种显带技术证实它属于15号等臂
Patient, male, 13 years old. Mild phenotype abnormalities (anti-idiotic incline palpebral palpebral fissure, strabismus, finger spindle type), severe mental retardation, epileptic-like episodes and abnormal behavior. Parents health, children born, father 42 years old, 34 years old mother. Abnormal behavior of children manifested in: hyperactivity, over-exercise, attention short duration, with the initiative to infringe on other people’s behavior, withdrawn, occasionally stool can not be made. No over-feeding phenomenon. Cytogenetic tests found that children carried an extra marker chromosome (karyotype: 47, XY, + mar), which is slightly longer than a G chromosome. Confirmed by a variety of banding technology that it belongs to the 15th arm