中国组织工程研究

中国组织工程研究 ›› 2010, Vol. 14 ›› Issue (53): 10043-10045.doi: 10.3969/j.issn.1673-8225.2010.53.039

• 器官移植临床实践 clinical practice of organ transplantation • 上一篇    下一篇

江苏地区矮小女童外周血淋巴细胞核型323例分析

潘  梅，张小琼，李  桦   

  1. 南京医科大学附属南京儿童医院遗传室，江苏省南京市  210008
  • 出版日期:2010-12-31 发布日期:2010-12-31
  • 作者简介:潘梅★，女，1981年生，江苏省盐城市人，汉族，2007年南京医科大学遗传学专业毕业，硕士，技师，主要从事小儿遗传性疾病的诊断。 mei_pom@163.com

Peripheral blood lymphocyte karyotype analysis of 323 female children with short stature in Jiangsu Province

Pan Mei, Zhang Xiao-qiong, Li Hua   

  1. Department of Heredity, Affiliated Nanjing Children’s Hospital of Nanjing Medical University, Nanjing  210008, Jiangsu Province, China
  • Online:2010-12-31 Published:2010-12-31
  • About author:Pan Mei★, Master, Technician, Department of Heredity, Affiliated Nanjing Children’s Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu Province, China mei_pom@163.com

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摘要：

背景：身材矮小是儿科常见的疾病，可由多种原因造成，多基因的遗传因素、染色体疾病、代谢性疾病、内分泌疾病、营养不良等，其中性染色体异常是女童身材矮小比较常见的原因。
目的：分析身材矮小女童细胞遗传学方面的原因。
方法：对2007-09/2009-09来南京医科大学附属南京儿童医院就诊323例身材矮小女童进行外周血淋巴细胞G显带染色体核型分析。其中< 6岁51例，6~13岁234例，> 13岁38例。
结果与结论：发现异常核型87例，占全部患者的26.9%，其中常染色体异常1例，性染色体异常86例，占全部被检患者的26.6%。提示性染色体异常是女童身材矮小的重要遗传因素，应引起临床医师的高度重视。

关键词: 矮小, 女童, 染色体核型, 性染色体, 遗传因素

Abstract:

BACKGROUND: Short stature is very common in pediatrics, which is caused by many reasons, such as polygenetic aspects, chrosomal disease, metabolic disease, endocrine disease, malnutrition and so on. Among them, sex chromosome abnormality is a very important etiologic agent causing short stature in female children.
OBJECTIVE: To explore the cytogenetic reason of short female children.
METHODS: Karyotype analysis of peripheral blood lymphocytes was performed on 323 female children with short stature, who were recruited at Affiliated Nanjing Children’s Hospital of Nanjing Medical University from September 2007 to September 2009, including 51 children below 6-year-old, 234 children between 6- and 13-year-old, and 38 children more than 13-year-old.
RESULTS AND CONCLUSION: In total, 87 cases out of the 323 girls had abnormal chromosome (26.93%). Among them one case was autosome abnormal, and the other 86 cases were X chromosome abnormal (26.6%). Sex chromosome abnormality is a very important etiologic agent causing short stature in female children. This should be highly emphasized by the clinicians.

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