[6号染色体父源单亲二倍体两例的产前诊断]
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6].
作者信息
Sun Haiyan, Lei Caixia, Zhang Shuo, Xiao Min, Wu Junping, Wu Jialong, Zhu Saijuan, Zhou Jing, Zhang Yueping
机构信息
Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):371-375. doi: 10.3760/cma.j.issn.1003-9406.2018.03.014.
OBJECTIVE
To report on prenatal diagnosis and follow up of two patients with paternal uniparental disomy of chromosome 6 (pUPD6).
METHODS
Fetal cells were subjected to in situ culturing and G-banded chromosomal analysis. DNA samples of the fetuses and their parents were also analyzed with single nucleotide polymorphism microarray (SNP array).
RESULTS
Both fetuses had a normal male karyotype. SNP array analysis showed both have carried pUPD6.
CONCLUSION
pUPD6 can lead to transient neonatal diabetes mellitus type 1. Homozygous status of recessive mutations, disorder of gene imprinting, and its influence on placental function are the main factors to be considered during prenatal diagnosis and genetic counseling for pUPD6.
目的
报告两例父源6号染色体单亲二倍体（pUPD6）患者的产前诊断及随访情况。
方法
对胎儿细胞进行原位培养及G显带染色体分析。同时采用单核苷酸多态性微阵列（SNP阵列）对胎儿及其父母的DNA样本进行分析。
结果
两例胎儿均具有正常男性核型。SNP阵列分析显示二者均携带pUPD6。
结论
pUPD6可导致1型短暂性新生儿糖尿病。隐性突变的纯合状态、基因印记紊乱及其对胎盘功能的影响是pUPD6产前诊断及遗传咨询时需考虑的主要因素。
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