11 号染色体长臂缺失1 例

doi:10.3969/j.issn.2095-5340.2022.05.010

发育医学电子杂志

2022, Vol. 10

Issue (5): 383-385 DOI: 10.3969/j.issn.2095-5340.2022.05.010

临床遗传病例报告

11 号染色体长臂缺失1 例

苏娜　马国达　曾词正　蓝翔　李艺养　陈日玲

（1. 广东医科大学附属医院　儿科，广东　湛江　524000；2. 广东医科大学顺德妇女儿童医院　儿科，广
东　佛山　528300；3. 江西省妇幼保健院　儿科，江西　南昌　330000；4. 广东医科大学顺德妇女儿童医院　妇幼研究所，广东　佛山　528300）

A case of deletion of the long arm of chromosome 11

　Su Na, Ma Guoda, Zeng Cizheng, et al

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摘要患儿男，9月余，因“肺部感染、营养不良”于2020年8月在广东医科大学附属医院儿科住院治疗。患儿为孕4产3，足月顺产，生后Apgar评分10-10-10分，出生体质量3.1 kg，身长50 cm，头围34 cm。父母非近亲结婚，有2个哥哥，体健。母亲人工流产1次，此次孕期产检未发现异常。患儿生后发现前额突出、鼻梁塌陷、低耳位、腭裂（图1A）、肌张力低、听力障碍，心脏彩超、血尿遗传代谢筛查正常。患儿面部畸形、肌张力降低，不能排除染色体疾病可能，通过序列比较基因杂交技术检测发现11号染色体(q14.1~q22.3)存在24.5 Mb片段缺失。患儿腭裂需长期鼻胃管喂养；1个月开始出现体质量不增，营养不良；5个月会抬头，8个月会单侧翻身，9个月不会坐。多次因肺部感染住院，给予对症治疗后好转出院。

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关键词: 11号染色体长臂缺失生长发育迟缓腭裂漏斗胸

收稿日期: 2021-02-22 发布日期: 2022-09-30

基金资助: 2020 年省科技创新战略专项资金（2020A1515010240）

通讯作者: 陈日玲 E-mail: chenrl319@163.com

引用本文:

苏娜　马国达　曾词正　蓝翔　李艺养　陈日玲. 11 号染色体长臂缺失1 例[J]. 发育医学电子杂志, 2022, 10(5): 383-385.
　Su Na, Ma Guoda, Zeng Cizheng, et al. A case of deletion of the long arm of chromosome 11. Journal of Developmental Medicine(Electronic Version), 2022, 10(5): 383-385.

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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2022.05.010 或 http://www.fyyxzz.com/CN/Y2022/V10/I5/383

[1]	宇亚芬　麻宏伟　黎芳　宋莹. 18 号染色体长臂缺失综合征1例[J]. 发育医学电子杂志, 2014, 2(3): 171-172.

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