CAJ | 학술논문

目的分析一例法洛四联征伴面容异常、脑发育不良患儿的遗传学病因与表型的关系.方法应用染色体微阵列芯片(chromosome microarray,CMA)进行患儿及父母外周血DNA拷贝数分析,并对其母亲的胎儿进行羊水DNA拷贝数分析.结果 CMA分析结果为arr[hg19] 3q22.1q23 (129 494 906-139 334 475)×1,患儿染色体3q22.1-q23存在约8.9 Mb的片段拷贝数缺失.此区域包含74个基因,其中41个为OMIM收录基因.此片段拷贝数缺失与多种临床综合征有关.患儿表现为睑裂狭小,上睑下垂,内眦赘皮、法洛四联征、脑发育不良、精神运动发育障碍,符合3q22-23缺失的表型,其中法洛四联征在此类缺陷中尚未见报道.患儿父母及同胞均未见此变异.结论染色体3q22-23微缺失与患儿睑裂狭小、脑发育不良、发育迟缓等临床表型相关,而法洛四联征也可成为该片段缺失的表型.CMA分析技术比传统细胞遗传学检测具有更为精确的定位,有助于疾病的深入发现与探索.
목적 분석일례법락사련정반면용이상、뇌발육불량환인적유전학병인여표형적관계.방법 응용염색체미진렬심편(chromosome microarray,CMA)진행환인급부모외주혈DNA고패수분석,병대기모친적태인진행양수DNA고패수분석.결과 CMA분석결과위arr[hg19] 3q22.1q23 (129 494 906-139 334 475)×1,환인염색체3q22.1-q23존재약8.9 Mb적편단고패수결실.차구역포함74개기인,기중41개위OMIM수록기인.차편단고패수결실여다충림상종합정유관.환인표현위검렬협소,상검하수,내자췌피、법락사련정、뇌발육불량、정신운동발육장애,부합3q22-23결실적표형,기중법락사련정재차류결함중상미견보도.환인부모급동포균미견차변이.결론 염색체3q22-23미결실여환인검렬협소、뇌발육불량、발육지완등림상표형상관,이법락사련정야가성위해편단결실적표형.CMA분석기술비전통세포유전학검측구유경위정학적정위,유조우질병적심입발현여탐색.
Objective To determine the genetic cause of a child with blepharophimosis, ptosis, and epicanthus inverses syndrome and tetralogy of Fallot, and to correlate the phenotype with the genotype.Methods Routine G-banding has been previously performed on the patient and her parents.Chromosome microarray analysis(CMA) was performed for the three individuals and the fetus.Results Chromosomal analysis has suggested normal karyotypes for the child and her parents.However, a de novo 8.9 Mb deletion on chromosome 3q22.1-q23 was detected by CMA.The deleted region has encompassed 74 genes including 41 disease-related genes, and this is also the most frequent region involved in interstitial 3q deletion.Patients with deletion of this region often have a common feature of dysplasia of eyelids, as well as a spectrum of other anomalies according to different breakpoints, including microcephaly, skeletal anomalies, congenital heart defects, cranial anomalies, intellectual disability and developmental delay.The patient's phenotype was in accordance with such spectrum.Her parents and sib did not show this variation by CMA.Conclusion The de novo interstitial deletion of 3q22.1-q23 probably underlies the main clinical manifestation in this child.CMA can provide more detailed information and allow further investigation of the genotype-phenotype correlation.