Objective To explore the main clinical features and undertake chromosomal studies of 49, XXXXY syndrome, a rare karyotype of Klinefelter syndrome. Methods The chromosomes were analyzed according to standard procedures and the karyotype was described according to ISCN 2009. Meanwhile, the clinical features of 49, XXXXY syndrome were retrospectively analyzed and relevant literature was reviewed. Results The patient whose routine karyotype analysis showed a karyotype of 49, XXXXY, had some typical characteristics, such as mental retardation, congenital atrial septal defect and kidney dysplasia, and especially obvious delay in verbal and oral motor function. Conclusions 49, XXXXY, a very rare karyotype of Klinefelter syndrome with severe symptom, is characterized by facial anomalies, mental retardation, ambiguous genitalia, language impairment, skeletal and cardiac malformations. Testosterone replacement therapy may be effective for the treatment of hypogonadism and developmental disorder.%目的 探讨Klinefelter综合征中少见病例49,XXXXY患儿的临床特征和实验室检查结果.方法 采用常规方法制作外周血染色体标本,按《人类细胞遗传学国际命名体制》(ISCN2009)描述核型；并结合文献,回顾性分析患儿的临床特征.结果 该例患儿存在精神发育迟滞、房间隔缺损、右肾发育不良等异常,语言表达显著落后.常规染色体核型为49,XXXXY.结论 49,XXXXY为Klinefelter综合征中最少见但症状最严重的核型,以面容异常、精神发育迟滞、性腺发育不良、语言发育落后、骨骼畸形和心脏畸形为特征,雄性激素替代治疗可能可以弥补其性腺功能减退和整体发育障碍.
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