CAJ | 학술논문

目的综合应用细胞及分子遗传学技术检测1例新生儿病例,以明确诊断,并结合文献资料对2q37缺失综合征的临床特点及遗传学诊断技术进行探讨.方法常规外周血淋巴细胞培养制片及G显带核型分析；常规提取外周血基因组DNA,进行微阵列比较基因组杂交(array comparative genomic hybridization,array-CGH)及多重连接依赖探针扩增(multiplex ligation-dependent probe amplification,MLPA)分析.结果患儿具有面部畸形、手部特殊握拳姿势及先天性心脏病等2q37缺失综合征的表型特征,array-CGH分析发现患儿2q37.3区存在4.7096 Mb的微缺失,包含COL6A3至PDCD1基因；MLPA及核型分析均验证了这一结果.结论患儿为2q37缺失综合征,该综合征具有临床可辨识性,array-CGH技术对2q37缺失综合征诊断及遗传与表型关系的研究具有实际应用价值.
목적 종합응용세포급분자유전학기술검측1례신생인병례,이명학진단,병결합문헌자료대2q37결실종합정적림상특점급유전학진단기술진행탐토.방법 상규외주혈림파세포배양제편급G현대핵형분석；상규제취외주혈기인조DNA,진행미진렬비교기인조잡교(array comparative genomic hybridization,array-CGH)급다중련접의뢰탐침확증(multiplex ligation-dependent probe amplification,MLPA)분석.결과 환인구유면부기형、수부특수악권자세급선천성심장병등2q37결실종합정적표형특정,array-CGH분석발현환인2q37.3구존재4.7096 Mb적미결실,포함COL6A3지PDCD1기인；MLPA급핵형분석균험증료저일결과.결론 환인위2q37결실종합정,해종합정구유림상가변식성,array-CGH기술대2q37결실종합정진단급유전여표형관계적연구구유실제응용개치.
Objective To diagnose a new born baby with 2q37 deletion syndrome by comprehensive use of cytogenetic and molecular techniques and to investigate the phenotype characteristics and applicability of array-comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) for detection of this syndrome.Method Following conventional chromosome preparation,G banded karyotyping was performed.Genomic DNA was extracted using standard procedures,which were then analyzed by array-CGH and MLPA.Result The patient presented with a typical face,special fist posture and congenital heart disease in 2q37 deletion syndrome.A 4.709 Mb deletion at 2q37.3(chr2:237,967,852-242,677,269.NCBI36/hg18,including genes from COL6A3 toPDCD1) was detected by array-CGH.The results of MLPA and G banded karyotyping confirmed the existence of this deletion.Conclusion 2q37.3 deletion was determined to be the cryptic cause of this case.2q37 deletion syndrome has some clinically recognizable characteristics.And array-CGH is a powerful technique for the accurate diagnosis and genotype-phenotype correlation study of this syndrome.