一例智力低下孕妇的遗传学分析及产前诊断

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一例智力低下孕妇的遗传学分析及产前诊断

张璘;任梅宏;宋桂宁;刘雪霞;张静;王建六

【期刊名称】《中华医学遗传学杂志》 【年(卷),期】2016(033)005

【摘 要】目的：探讨1例严重智力低下、生长发育迟缓伴一次不良孕产史的孕妇的遗传学机制,并对其胎儿进行产前诊断。方法采用高分辨染色体 G 显带确定患者的核型,用荧光原位杂交(fluorescence in situ hybridization,FISH)进一步对核型进行鉴定,并采用全基因组基因芯片检测其染色体拷贝数变异,并分析与其临床表现的关系。通过羊膜腔穿刺对胎儿行基因芯片检测。结果孕妇为嵌合体,外周血含有47和46条染色体的2种细胞系,均包含18q21.2q23区缺失,FISH 检测其中一种细胞系中的标记染色体来源于15号染色体,涉及15号染色体的短臂和含有 SNRPN 位点在内的部分长臂,即孕妇染色体核型为：47,XX,del(18)(q21.3),+ish mar(D15Z1+,SNRPN+)[82]/46,XX,del(18)(q21.3)[18]。基因芯片检测证实患者15q11.2q12区存在3.044 Mb 片段的重复,含有NIPA1、SNRP N 等17个基因,与智力低下、自闭症、全身发育迟缓等相关,同时18q21.33q23区存在17.992 Mb 的缺失,含有TNFRSF11A、PHLPP1等39个基因,与智力低下、全身发育迟缓、身材矮小、腭裂等有关。胎儿芯片检测提示其18q21.33q23区段存在17.9 Mb 片段缺失,涉及18号染色体长臂缺失综合征区域。经家属同意于孕21周终止妊娠。结论染色体核型分析是检测染色体数目和结构异常的金标准方法,结合特定位点的 FISH 检测有利于判断标记染色体的来源,同时结合全基因组基因芯片技术可以分析染色体拷贝数变异区域所包含的致病基因及临床表型关系。%Objective To conduct genetic testing and prenatal diagnosis for a pregnant women with


growth retardation,severe mental retardation,and a history of adverse pregnancies.Methods G-banded chromosome analysis,fluorescence in situ hybridization (FISH),and whole genome DNA microarray were used to analyze the patient and her fetus.Results The women was found to be a chimera containing two cell lines with 47 and 46

chromosomes,respectively.Both have involved deletion of 18q21.2q23.FISH analysis suggested that the cell line containing 47 chromosomes has harbored a chromosome marker derived from chromosome 1 5.The marker has contained chromosome 1 5p involving the SNRP N locus and part of 1 5q, which gave rise to a karyotype of 47,XX,del18q21.3,+ish mar D1 5Z1+ SNRPN+[82]/46,XX,del18q21. 3[18 ].Whole genome DNA microarray confirmed that a 3.044 Mb fragment from 1 5q1 1.2q12 was duplicated,which involved NIPA1,SNRPN and other 1 7 OMIM

genes.Duplication of this region has been characterized by low mental retardation,autism,developmental delay.Meanwhile,there was a 1 7.992 Mb deletion at 18q21.33q23,which contained 39 OMIM genes including TNFRSF1 1A and PHLPP1.This fragment was characterized by mental retardation,developmental delay,short stature,and cleft palate. Whole genome microarray analysis confirmed that there was a 1 7.9 Mb deletion at 18q21.33q23,which has been implemented with mental

retardation,general growth retardation,short stature,and cleft palate. After genetic counseling,the family decided to terminate the pregnancy at 21st week.Conclusion Combined chromosome karyotyping,FISH,and whole genome DNA microarray can determine the origin of marker


chromosomes and facilitate delineation of its correlation with the clinical phenotype.

【总页数】4页(P674-677)

【作 者】张璘;任梅宏;宋桂宁;刘雪霞;张静;王建六

【作者单位】100044 北京大学人民医院产前诊断中心;100044 北京大学人民医院产前诊断中心;100044 北京大学人民医院产前诊断中心;100044 北京大学人民医院产前诊断中心;100044 北京大学人民医院产前诊断中心;100044 北京大学人民医院产前诊断中心 【正文语种】中 文 【相关文献】

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