摘要
目的联合应用细胞与分子遗传学技术诊断1例智力低下孕妇及其胎儿。方法应用G显带分析胎儿及父母的染色体核型,之后采用单核苷酸多态微阵列芯片(single nucleotide polymorphism-array,SNP-array)精确定位孕妇染色体缺失片段的区域,荧光原位杂交(fluorescence in situ hybridization,FISH)技术进行验证。结果G显带染色体分析显示孕妇为46,XX,del(11)(q24),胎儿为46,XN,del(11)(q24)mat,SNP-array、FISH检测明确孕妇11号染色体11q24.1-q25段缺失,孕妇与胎儿同为Jacobsen综合征患者。结论细胞与分子遗传学技术的联合应用有助于明确部分智力低下患者的病因,并对其胎儿的产前诊断具有重要的价值。
Objective To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID). Methods The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis. Results G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46, XX, del(11)(q24), and the fetus was a carrier of 46, XN, del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome. Conclusion Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.
作者
郭彩琴
王峻峰
唐叶
石皓
刘俊
赵丽
Guo Caiqin;Wang Junfeng;Tang Ye;Shi Hao;Liu Jun;Zhao Li(Center of Prenatal Diagnosis, Wuxi Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Wuxi, Jiangsu 214002, China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第8期826-828,共3页
Chinese Journal of Medical Genetics
关键词
智力低下
Jacobsen综合征
单核苷酸多态微阵列
荧光原位杂交
Intellectual disability
Jacobsen syndrome
Single nucleotide polymorphism array
Fluorescence in situ hybridization
