中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2015年
2期
140-142
,共3页
痉挛,婴儿%癫痫%遗传学%核型分析
痙攣,嬰兒%癲癇%遺傳學%覈型分析
경련,영인%전간%유전학%핵형분석
Spasms,infantile%Epilepsy%Genetics%Karyotyping
目的 分析婴儿痉挛症患儿的临床特征,并对患儿及其父母进行遗传学检测.方法 分析2014年3月接诊的1例婴儿痉挛症患儿面部特征、体格和智力发育状况.实验室检查采用常规G显带分析患儿及父母外周血染色体核型,单核苷酸多态性(SNP)基因芯片技术检测染色体微小改变,荧光原位杂交技术(FISH)验证结果,并对其父母染色体中期分裂象进行FISH检测.结果 患儿女,7岁,语言、运动、语言发育严重迟滞,生后4个月出现癫痫发作,临床诊断为“婴儿痉挛症”.体检见消瘦,面容特殊,存在刻板样不自主动作.头颅CT平扫提示“硬膜下积液”.脑电图检查提示:痫样放电频繁;高度失律.患儿及其父母常规染色体核型分析(400条带)均显示为正常核型.SNP微阵列技术检测显示该患儿染色体5q14.3区段微缺失,缺失片段为2.03 Mb,分子核型为arr5q14.3(87 538 430 ～ 89 565 757)× 1,该区段包含MEF2C基因.选择区域特异性RP11-293 L20探针,应用FISH技术对芯片结果进行验证,确认患儿5q14.3区域存在杂合缺失.父母染色体核型正常,无5q14.3区域缺失,无插入突变.结论 患儿染色体5q14.3区段发生缺失为婴儿痉挛症的病因.患儿为新发生的5q14.3微缺失综合征,父母再次生育时,建议选择SNP芯片技术进行产前诊断.
目的 分析嬰兒痙攣癥患兒的臨床特徵,併對患兒及其父母進行遺傳學檢測.方法 分析2014年3月接診的1例嬰兒痙攣癥患兒麵部特徵、體格和智力髮育狀況.實驗室檢查採用常規G顯帶分析患兒及父母外週血染色體覈型,單覈苷痠多態性(SNP)基因芯片技術檢測染色體微小改變,熒光原位雜交技術(FISH)驗證結果,併對其父母染色體中期分裂象進行FISH檢測.結果 患兒女,7歲,語言、運動、語言髮育嚴重遲滯,生後4箇月齣現癲癇髮作,臨床診斷為“嬰兒痙攣癥”.體檢見消瘦,麵容特殊,存在刻闆樣不自主動作.頭顱CT平掃提示“硬膜下積液”.腦電圖檢查提示:癇樣放電頻繁;高度失律.患兒及其父母常規染色體覈型分析(400條帶)均顯示為正常覈型.SNP微陣列技術檢測顯示該患兒染色體5q14.3區段微缺失,缺失片段為2.03 Mb,分子覈型為arr5q14.3(87 538 430 ～ 89 565 757)× 1,該區段包含MEF2C基因.選擇區域特異性RP11-293 L20探針,應用FISH技術對芯片結果進行驗證,確認患兒5q14.3區域存在雜閤缺失.父母染色體覈型正常,無5q14.3區域缺失,無插入突變.結論 患兒染色體5q14.3區段髮生缺失為嬰兒痙攣癥的病因.患兒為新髮生的5q14.3微缺失綜閤徵,父母再次生育時,建議選擇SNP芯片技術進行產前診斷.
목적 분석영인경련증환인적림상특정,병대환인급기부모진행유전학검측.방법 분석2014년3월접진적1례영인경련증환인면부특정、체격화지력발육상황.실험실검사채용상규G현대분석환인급부모외주혈염색체핵형,단핵감산다태성(SNP)기인심편기술검측염색체미소개변,형광원위잡교기술(FISH)험증결과,병대기부모염색체중기분렬상진행FISH검측.결과 환인녀,7세,어언、운동、어언발육엄중지체,생후4개월출현전간발작,림상진단위“영인경련증”.체검견소수,면용특수,존재각판양불자주동작.두로CT평소제시“경막하적액”.뇌전도검사제시:간양방전빈번;고도실률.환인급기부모상규염색체핵형분석(400조대)균현시위정상핵형.SNP미진렬기술검측현시해환인염색체5q14.3구단미결실,결실편단위2.03 Mb,분자핵형위arr5q14.3(87 538 430 ～ 89 565 757)× 1,해구단포함MEF2C기인.선택구역특이성RP11-293 L20탐침,응용FISH기술대심편결과진행험증,학인환인5q14.3구역존재잡합결실.부모염색체핵형정상,무5q14.3구역결실,무삽입돌변.결론 환인염색체5q14.3구단발생결실위영인경련증적병인.환인위신발생적5q14.3미결실종합정,부모재차생육시,건의선택SNP심편기술진행산전진단.
Objective To characterize the clinical feature of a child with infantile spasm,karyotype and molecular cytogenetic analyses were performed to investigate the cause of disease and choose a suitable prenatal diagnostic method for the couple with the child.Method Routine G-banding was performed to analyze the karyotype of the patient and her parents,and molecular karyotyping was performed using SNP array.Confirmation and segregation studies were performed by fluorescence in situ hybridization (FISH).Result The patient presented with severe psychomotor retardation,epilepsy,muscular hypotonia,stereotypic behavior and facial phenotype characterized by bulging forehead,cupid-bow upper lip,large ears with prominent lobes and pronounced occipital protuberance.Subdural collection of fluid was shown in cranial CT scan,and frequent interictal epileptiform discharges and hypsarrhythmia was shown in EEG monitoring.Routine G-banding revealed a normal female karyotype.A 2.03 Mb deletion in 5q14.3 including MEF2C gene was revealed using SNP array,and the patient's molecular karyotype was arr 5q14.3 (87 538 430-89 565 757) × 1.FISH with locus-specific probe RP11-293L20 from the deleted region on metaphase preparations of the patient and her parents confirmed the de novo occurrence of the deletion.Conclusion The microdeletion of 5q14.3 was the cause of infantile spasm in the patient.FISH confirmed the de novo occurrence of the microdeletion.SNP array should be chosen as prenatal diagnostic method for the couple with the child.
