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学科主题: 临床医学
题名:
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
作者: 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
发表日期: 2015-06-26
DOI: 10.1186/s13039-015-0145-4
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53487
Appears in Collections:北京大学第一临床医学院_期刊论文

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作者单位: 1.Berry Genom, Beijing 100015, Peoples R China
2.Peking Univ, Hosp 1, Dept Obstet, Beijing 100034, Peoples R China

Recommended Citation:
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.
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