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Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis
Ma, Jingmei1; Cram, David S.2; Zhang, Jianguang2; Shang, Ling2; Yang, Huixia1; Pan, Hong1
关键词Noninvasive Prenatal Testing Prenatal Diagnosis Karyotyping Fluorescent In Situ Hybridization Quantitative Fluorescent Pcr Trisomy 9 Mosaicism Syndrome Isodisomy 9 Uniparental Disomy
刊名MOLECULAR CYTOGENETICS
2015-06-26
DOI10.1186/s13039-015-0145-4
8
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]CONFINED PLACENTAL MOSAICISM ; MATERNAL UNIPARENTAL DISOMY ; FETAL ANEUPLOIDIES ; CHROMOSOME-9 ; MECHANISMS ; HUMANS ; ORIGIN
英文摘要

Background: Non-invasive prenatal testing (NIPT) is currently used as a frontline screening test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are conveyed to the clinician suggestive of fetuses with rare chromosome disease syndromes. We describe a child with trisomy 9 (T9) mosaicism where the prenatal history reported a positive NIPT result for T9 that was unconfirmed by conventional prenatal diagnosis.

Methods: NIPT was performed by low coverage whole genome plasma DNA sequencing. Karyotyping and fluorescent in situ hybridization (FISH) analysis with chromosome 9p-ter and 9q-ter probes was used to determine the somatic cell level of T9 mosaicism in the fetus and child. Quantitative fluorescent PCR (Q-PCR) of highly polymorphic short tandem repeat (STR) chromosome 9 markers was also performed to investigate the nature of the T9 mosaicism and the parental origin.

Results: A 22 month old girl presented with severe developmental delay, congenital cerebral dysplasia and congenital heart disease consistent with phenotypes associated with T9 mosaicism syndrome. Review of the prenatal testing history revealed a positive NIPT result for chromosome T9. However, follow up confirmatory karyotyping and FISH analysis of fetal cells returned a normal karyotype. Post-natal studies of somatic cell T9 mosaicism by FISH detected levels of approximately 20 % in blood and buccal cells. Q-PCR STR analysis of family DNA samples suggested that the T9 mosaicism originated by post-zygotic trisomic rescue of a paternal meiotic II chromosome 9 non-disjunction error resulting in the formation of two distinct somatic cell lines in the proband, one with paternal isodisomy 9 and one with T9.

Conclusion: This study shows that NIPT may also be a useful screening technology to increase prenatal detection rates of rare fetal chromosome disease syndromes.

语种英语
WOS记录号WOS:000356850500001
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53487
专题北京大学第一临床医学院
作者单位1.Berry Genom, Beijing 100015, Peoples R China
2.Peking Univ, Hosp 1, Dept Obstet, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Ma, Jingmei,Cram, David S.,Zhang, Jianguang,et al. Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis[J]. MOLECULAR CYTOGENETICS,2015,8.
APA Ma, Jingmei,Cram, David S.,Zhang, Jianguang,Shang, Ling,Yang, Huixia,&Pan, Hong.(2015).Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis.MOLECULAR CYTOGENETICS,8.
MLA Ma, Jingmei,et al."Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis".MOLECULAR CYTOGENETICS 8(2015).
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