CAJ | 학술논문

目的分析1例Smith-Magenis综合征患儿的临床特征及基因诊断情况.方法分析患儿面部特征、体格和智力发育状况.实验室检查采用常规和高分辨G显带分析患儿及父母外周血染色体核型、比较基因组杂交芯片(array comparative genomic hybridization,array CGH)检测微小染色体改变,荧光定量PCR验证芯片结果.结果患儿女,2岁,因发育落后和先天性心脏病就诊.平日入睡困难,睡眠周期短.动作多,有撞头等自我伤害行为.体检见面容特殊:发际低,前额突出,面部平,低鼻梁,嘴角向下,上唇轻度外翻,耳位低,腭弓高.Gesell发育测试显示中度发育落后.心脏彩超显示室间隔缺损、房间隔缺损、主动脉骑跨、肺动脉高压.头颅核磁共振显示脑室大、脑沟深.常规染色体核型为46,XX,高分辨染色体核型分析17号染色体短臂疑似缺失,比较基因组杂交芯片分析显示该患儿17p11.2缺失,缺失片段为3.8 Mb,分子核型为46,XX.arr17p11.2(16543655-20374751)×1 dn.父母核型正常.结论 Smith-Magenis综合征主要表现生长发育落后和精神发育迟滞,特殊面容,睡眠障碍,行为异常等临床特征,比较基因组杂交芯片检测明确其分子病因为17p11.2缺失.
목적 분석1례Smith-Magenis종합정환인적림상특정급기인진단정황.방법 분석환인면부특정、체격화지력발육상황.실험실검사채용상규화고분변G현대분석환인급부모외주혈염색체핵형、비교기인조잡교심편(array comparative genomic hybridization,array CGH)검측미소염색체개변,형광정량PCR험증심편결과.결과 환인녀,2세,인발육락후화선천성심장병취진.평일입수곤난,수면주기단.동작다,유당두등자아상해행위.체검견면용특수:발제저,전액돌출,면부평,저비량,취각향하,상진경도외번,이위저,악궁고.Gesell발육측시현시중도발육락후.심장채초현시실간격결손、방간격결손、주동맥기과、폐동맥고압.두로핵자공진현시뇌실대、뇌구심.상규염색체핵형위46,XX,고분변염색체핵형분석17호염색체단비의사결실,비교기인조잡교심편분석현시해환인17p11.2결실,결실편단위3.8 Mb,분자핵형위46,XX.arr17p11.2(16543655-20374751)×1 dn.부모핵형정상.결론 Smith-Magenis종합정주요표현생장발육락후화정신발육지체,특수면용,수면장애,행위이상등림상특정,비교기인조잡교심편검측명학기분자병인위17p11.2결실.
Objective To explore the clinical feature and genetic diagnosis for Smith-Magenis syndrome (SMS).Method The clinical data,including craniofacial anomalies,physical and mental status were analyzed.Routine and high resolution G-banding was performed to analyze the karyotype of the patient and her parents,and array comparative genomic hybridization (array CGH ) was used to detect small chromosome anomaly.Result A-two-year old girl was sent to our clinic for mental retardation and cardiac malformation.Some sleep problems were reported by parents,including difficulties falling asleep,shortened sleep cycles. She also had some neurobehavioral symptoms including hyperactivity and self-injurious behaviors head-banging.She had distinctive craniofacial features including low hairline,frontal bossing,a broad face,broad nasal bridge,a tented upper lip,prognathism,low-set ears and high-vaulted arch.She had moderate mental retardation.Cardiac findings included ventricular septal defect,atrial septal defect,overriding aorta and pulmonary hypertension. Primary ventriculomegaly was seen in magnetic resonance imaging (MRI). Routine karyotype analysis showed a karyotype of 46,XX. However,high resolution karyotype analysis showed a suspected partial deletion of the short arm of chromosome 17.Array comparative genomic hybridization ( array CGH ) finely mapped the deletion to a 3.8 Mb region on 17p11.2.The molecular karyotype was then ascertained as 46,XX.arr17p1 1.2 ( 16543655-20374751 ) × 1 dn.The parents had normal karyotypes. Conclusion Smith-Magenis syndrome is a multisystem disorder characterized by developmental delay and mental retardation, distinctive craniofacial features, sleep disturbance and behavioral problems.Array comparative genomic hybridization (array CGH) finely mapped the deletion on 17p11.2.