临床儿科杂志第 35 卷第 8 期 2017 年 8 月J Clin Pediatr Vol.35 No.8 Aug. 2017· 613 ·doi:10.3969/j.issn.1000-3606.2017.08.013sheepskin
Jacobn综合征合并Paris-T rousau综合征
1例报告并文献复习
林 俊1 陈小红1 赵培伟2 黄玉凤2毕 博1 何学莲2
straightawaysutent武汉市儿童医院 1.康复科，2.中心实验室（湖北武汉 430016）
摘要： 目的 探讨Jacobn综合征合并Paris-Trousau综合征的临床特征。方法 回顾分析1例Jacobn综合征合并Paris-Trousau综合征患儿的临床资料，并复习相关文献。结果 患儿，女，1岁2个月，发育落后，能独坐，不会独走，四肢肌力可，尖头，眼距较宽、眼睑下垂，鼻梁低，眉毛稀疏；语言发育落后。脑电图未见异常，MRI示白质脑病。患儿新生儿期血小板减少。应用染色体微阵列芯片分析技术发现患儿11q23.3~ q25区域存在缺失，缺失片段的大小为15.7 Mb，该区域包括Paris-Trousau综合征以及Jacobn综合征的缺失区域，患儿确诊为Jacobn综合征合并Paris-Trousau综合征。结论 Jacobn综合征合并Paris-Trousau综合征患儿颅面骨畸形，大脑白质发育异常，新生儿期血小板减少，染色体芯片检测有助于明确诊断。
关键词： Jacobn综合征； Paris-Trousau综合征； 表型
One ca report of Jacobn syndrome combine with Paris-Trousau syndrome LIN Jun1, CHEN Xiaohong1, ZHAO Peiwei2, HUANG Yufeng2, BI Bo1, HE Xuelian2(1.Department of Rehibilitation, 2. Clinical Rearch Center, Wuhan Children’s Hospital, Wuhan 430016, Hubei, China )
Abstract: Objective To investigate the clinical features of a patient diagnod with Jacobn syndrome (JBS) and Paris-Trousau syndrome (PTS) using chromosomal microarray analysis. Method A retrospective analysis including the patients’ clinical manifestations, laboratory examination and genetic analysis was carried out and related literature were reviewed. Results
A 14 month-old girl with global development retardation was reported. The patient can sit but cannot walk independently. The超好听的歌曲推荐
日语等一下怎么说
patient also prented hypsicephaly, ocular hypertelorism, palpebral ptosis, flat nasal bridge, spar eyebrows, and speech delay.
Gell development scale showed that the patient was global development retarded with a development level of 40 weeks. No o bvious abnormality was found in EEG but the MRI showed cer雅思是什么
how you like that翻译ebral white matter abnormality. This patient was also diagnod with neonatal thrombocytopenia in other hospital. Genomic CNVs were detected in this girl, and a 15.7Mb loss was found in the 11q23.3q25 region that covers JBS and PTS region. Conclusions Patient diagnod with JBS and PTS often prent with craniofacial abnormalities, cerebral white matter abnormality and neonatal thrombocytopenia. Chromosomal microarray analysis can help diagnosis.u turn
Key words: Jacobn syndrome; Paris-Trousau syndrome; Chromosomal Microarray Analysis; Clinical phenotype
Jacobn综合征（Jacobn syndrome，JBS，OMIM 147791）是一种罕见的由11号染色体长臂远端缺失导致的以精神发育迟缓并多发畸形为主要临床表现的综合征，1973年Jacobn等[1]首先报道该疾病。国外报道JBS的发病率约为1/100 000，女性患者多于男性，国内未见相关报道[2,3]。既往研究发现，JBS缺失区域的范围为5~20 Mb，且大多数的患者的缺失包括Paris-Trousau综合征（Paris-Trousau syndrome, PTS，OMIM 188025）的缺失区域（11q23.3~ q24.1）[4]，患者的临床表现因染色体缺失的位置及大小存在较大差异。现报告1例诊断为JBS合并PTS的患儿，探讨该疾病的临床表型及染色体异常的特点。
1 临床资料
患儿，女，1岁2个月；因发育落后来武汉市儿童医院就诊。体格检查：患儿能独坐，但不会走，四肢肌力可；前额突出，尖头，眼距较宽、眼睑下垂，鼻梁低，眉毛稀疏，脖子较短，双脚可见又长又粗的大脚趾，见
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