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[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6].

摘要:

<AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To report on prenatal diagnosis and follow up of two patients with paternal uniparental disomy of chromosome 6 (pUPD6).</AbstractText><AbstractText Label="METHODS" NlmCategory="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).</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Both fetuses had a normal male karyotype. SNP array analysis showed both have carried pUPD6.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">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.</AbstractText>

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作者单位: Shanghai Ji Ai Genetics &amp; IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China. chnypzhang@163.com. [1]
期刊:
《Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics》 2018年35卷3期371-375页
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.014
发布时间: 2018-12-19
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