发育医学电子杂志  2023, Vol. 11 Issue (4): 282-284,315 DOI: 10.3969/j.issn.2095-5340.2023.04.007 |
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结构畸形
病例报告
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| 17p11.2 微重复致Potocki-Lupski 综合征1 例报道及四年随访结果 |
| 吕少广 刘芳 阴晓伟 |
解放军联勤保障部队第九八〇医院 儿科，河北 石家庄 050082
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| A case report and 4-year follow-up results of Potocki-Lupski syndrome caused by 17p11.2 microduplication |
| Lyu Shaoguang, Liu Fang, Yin Xiaowei |
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摘要 患儿男，2岁，因“智力、语言发育落后，肌张力低下”就诊。患儿胎龄40+5周，顺产，无窒息抢救史，出生体质量3 420 g（50~75百分位数 ），身长50m( 25~50百分位数 )，头围32cm（<3百分位数）。其母孕4产2，有不良孕史，第1胎孕4月时产检脑积水引产，第2胎（其姐）目前6岁，体健，智力、语言正常。第3胎孕1月时不明原因流产。该患儿为第4胎，孕前产检均未见异常，其母孕后期自觉胎动少。
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| 关键词:
Potocki-Lupski综合征
基因
染色体微阵列分析
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收稿日期: 2022-09-16
出版日期: 2023-07-31
发布日期: 2023-07-31
期的出版日期: 2023-07-31
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| 基金资助: 河北省重点研发计划（182777128D） |
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通讯作者:
刘芳
E-mail: liufanglafy@126.com
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| [1] |
Society of Neonatologist, Chinese Medical Doctor Association. Consensus recommendations on the prevention and early management of respiratory distress syndrome in preterm infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 129
-131
. |
| [2] |
Professional Committee of Respiratory, Society of Neonatologist, Chinese Medical Doctor Association. Clinical application recommendations for heated humidified high flow nasal cannula[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 132
-135
. |
| [3] |
YAN Jun, ZHU Xing-wang, SHI Yuan. Application progress of noninvasive ventilate technique for premature infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 136
-140
. |
| [4] |
GU Min-fang, YANG Chuan-zhong. Progress of intrapartum resuscitation for premature infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 141
-145
. |
| [5] |
LIU Shu-hua, SHEN Yue-bo, LIU Cui-qing, MA Li. The efficacy of pulmonary surfactant for pulmonary function in premature tension pneumothorax[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 146
-151
. |
| [6] |
GAO Xiao-hui, MAO Jian. Clinical features of non-oliguric hyperkalemia in extremely low birth weight infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 152
-158
. |
| [7] |
XIA Yao-fang, YANG Juan , TIAN Bao-li, et al. Value of amplitude-integrated electroencephalography in monitoring acute period of neonatal bilirubin encephalopathy and prognostic assessment[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 159
-163
. |
| [8] |
WANG Li-rong, SUN Xiao-yan, ZHU Ruo-xin, et al. Epidemiological investigation and analysis of women aged 40-55 years old with osteoporosis in Gansu province[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 164
-167
. |
| [9] |
CHEN Ru-yue, SHEN Yun-yan, CHEN Qing , et al. Five cases about Henoch-Schönlein purpura complicated with central nervous system injury in children and literatures review[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 168
-171
. |
| [10] |
ZHANG Ai-run, FANG Xiao-yi. Lung function testing of bronchopulmonary dysplasia for infants and children[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 172
-176
. |
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