一例非典型缺失型神经纤维瘤Ⅰ型胎儿的产前诊断  

Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion

作　　者：林少宾[1] 吴坚柱[1] 张志强[1] 纪媛君 方群[1] 陈宝江[1] 罗艳敏[1] 

机构地区：[1]中山大学附属第一医院胎儿医学中心,广州510080

出　　处：《中华医学遗传学杂志》2016年第2期212-215,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨1例胎儿非典型缺失型神经纤维瘤Ⅰ型（neurofibromatosis type1，NF1）的基因型与异常表型的对应关系。方法对1例超声检查提示胎儿双足内翻的孕妇进行脐血穿刺。对获取的脐血样本进行G显带核型分析以及单核苷酸多态性微阵列（ single nucleotide polymorphism array,SNP array）检测，并采用荧光原位杂交（fluorescence in situ hybridization, FISH）验证SNParray的检测结果。对患儿父母进行外周血FISH检测，以明确胎儿基因组变异的来源。结果胎儿脐血染色体核型为46，XY。脐血SNParray结果显示染色体17q11．2区存在3．132Mb的基因组片段缺失。该缺失区域覆盖了NF1微缺失综合征区域。对胎儿及其父母的FISH检测则提示胎儿携带的17q11．2微缺失为新突变。结论胎儿足内翻可能是不典型缺失型NF1的超声异常表现之一。SNParray可以在胎儿期准确地诊断缺失型NF1。Objective To analyze the correlation between atypical neurofibromatosis type 1 （NF1） microdeletion and fetal phenotype. Methods Fetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array（SNP array） were performed on the fetal blood sample. Fluorescence in situ hybridization（FISH） was used to confirm the result of SNP array analysis. FISH assay was also carried out on peripheral blood specimens from the parents to ascertain the origin of mutation. Results The karyotype of fetus was found to be 46,XY by G- banding analysis. However, a 3. 132 Mb mierodeletion was detected in chromosome region 17q11.2 by SNP array, which overlaped with the region of NF1 microdeletion syndrome. Analyzing of the specimens from the fetus and its parents with FISH has confirmed it to be a de novo deletion. Conclusion Talipes equinovarus may be an abnormal sonographic feature of fetus with atypical NF1 mierodeletion which can be accurately diagnosed with SNP array.

关 键 词：神经纤维瘤Ⅰ型 微缺失 单核苷酸多态性微阵列 足内翻 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]