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首页> 外文期刊>Hong Kong Journal of Paediatrics >Ring Chromosome 15 Syndrome: Case Report and Literature Review
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Ring Chromosome 15 Syndrome: Case Report and Literature Review

机译：环形15号染色体综合征：病例报告和文献复习

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Objective: This report aimed to add our knowledge on the clinical features, diagnosis and management of ring chromosome 15 syndrome. Methods: Case report and literatures review. Results: A 4.5-year-old girl was admitted to our unit because of short stature. She was 86 cm in height and 9 kg in weight. Physical examination showed sparse temporal hair, right simian crease, fifth finger clinodactyly, and many irregular café-au-lait spots on the chest, abdomen, and inner thigh. Mental retardation was found. The results of cranial magnetic resonance imaging (MRI) as well as abdominal and cardiac ultrasonography were normal. Growth hormone (GH) provocative tests showed normal GH peak. Karyotyping of the lymphocytes showed 46,XX, r(15) pattern. Recombination human GH (rhGH) with a dose of 0.1 U/kg-1. d-1 was administered for 4 months with height increment of 3 cm. Conclusion: Ring chromosome 15 syndrome should be considered in patients with short stature and café-au-lait spots. Timely recognition and hereditary tendency counseling is required. rhGH therapy may improve the growth velocity.
机译：目的：本报告旨在增加我们对15号环染色体综合征的临床特征，诊断和管理的认识。方法：病例报告和文献复习。结果：一个4.5岁的女孩因身材矮小而被录入我们的病房。她身高86厘米，体重9公斤。体格检查发现颞毛稀疏，右猿猴皱纹，第5指触诊，胸部，腹部和大腿内侧有许多不规则的咖啡色斑点。发现智力低下。头颅磁共振成像（MRI）以及腹部和心脏超声检查结果均正常。生长激素（GH）激发试验显示正常GH峰。淋巴细胞的核型分析显示46，XX，r（15）模式。以0.1U / kg SUP -1的剂量重组人GH（rhGH）。 d -1 服用4个月，身高增加3 cm。结论：身材矮小且有咖啡色斑点的患者应考虑15号环染色体综合征。需要及时识别和遗传倾向咨询。 rhGH疗法可以提高生长速度。

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