陈春 1邓光明 1陈希敏 1王锦 1程德华 2秦胜芳 1宋筱1
作者信息
- 1. 610045 成都,四川省妇幼保健院/四川省妇女儿童医院/成都医学院附属妇女儿童医院医学遗传与产前诊断科
- 2. 中信湘雅生殖与遗传专科医院
- 折叠
摘要
Abstract
The adjacent-2 segregation is a rare separation mode in the gametic formation of balanced translocation carriers.A fetus with severe fetal growth restriction(FGR)and chromosomal abnormalities is reported,and the prenatal diagnosis was performed by G-banding karyotype analysis,chromosomal microarray analysis(CMA),fluorescence in situ hybridization(FISH),quantitive fluorescent polymerase chain reaction(QF-PCR).The CMA result of amniotic fluid was arr[hg19]18p11.32q11.2(141,354-21,994,637)×3,21q1 1.2q21.3(15,502,777-29,700,071)×1;Refer to the CMA results,the fetal karyotype was described as 46,XX,+der(18)t(18;21)(q11.2;q22.1),-21.In order to verify the source of abnormal karyotype,the chromosomes of parents'peripheral blood were detected.The father's karyotype was 46,XY,t(18;21)(q11.2;q22.1),and the pregnant woman had normal karyotype.FISH results showed that the amniotic fluid cells had two normal 18 chromosomes,one normal 21 chromosome and one derived 18 chromosome,and that the father was a cross-translocation carrier of the 18p and 21p.To rule out the possibility that the fetus's two normal chromosomes 18 were uniparental disomy,this study used the results of identification of maternal blood contamination,and the results of short tandem repeat(STR)test confirmed that only one of the two normal chromosome 18 came from the mother.Therefore,the application of multiple detection techniques in the diagnosis of rare separation methods such as adjacent-2 segregation can help doctors to provide accurate prenatal genetic counseling for those balanced translocation carriers,and to identify the types of chromosomal abnormalities in their fetuses.关键词
易位,遗传/核型分析/微阵列分析/原位杂交,荧光/串联重复序列/相邻分离-2Key words
Translocation,genetic/Karyotyping/Microarray analysis/In situ hybridization,fluorescence/Tandem repeat sequences/Adjacent-2 segregation
