Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome

Tomoko Yamaguchi, Masatoshi Yamaguchi, Keiko Akeno, Midori Fujisaki, Kaeko Sumiyoshi, Masanao Ohashi, Hiroshi Sameshima, Mamoru Ozaki, Maki Kato, Takema Kato, Eriko Hosoba, Hiroki Kurahashi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome is a rare genetic disorder. In this case report, we describe the prenatal diagnosis of PCS/MVA syndrome in a 24-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (−5.0 standard deviations). Amniocentesis and chromosomal analysis confirmed PCS in 80% of cultured fetal cells. PCS findings were positive in 9% of paternal cells and 11% of maternal cells, indicative that both were PCS carriers. Genetic analysis confirmed that the fetus carried a combined heterozygote of maternal G > A point mutation of the promoter area of the BUB1B gene and a paternal Alu sequence insertion between intron 8 and exon 9 of the BUB1B gene. As PCS/MVA syndrome is associated with the development of various malignancies in early life, prenatal diagnosis is important for effective planning of post-natal care.

Original languageEnglish
Pages (from-to)1313-1317
Number of pages5
JournalJournal of Obstetrics and Gynaecology Research
Volume44
Issue number7
DOIs
Publication statusPublished - 01-07-2018

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Chromatids
Prenatal Diagnosis
Mothers
Microcephaly
Inborn Genetic Diseases
Amniocentesis
Insertional Mutagenesis
Second Pregnancy Trimester
Heterozygote
Fetal Development
Point Mutation
Introns
Genes
Exons
Cultured Cells
Fetus
Mosaic variegated aneuploidy syndrome
Neoplasms

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology

Cite this

Yamaguchi, Tomoko ; Yamaguchi, Masatoshi ; Akeno, Keiko ; Fujisaki, Midori ; Sumiyoshi, Kaeko ; Ohashi, Masanao ; Sameshima, Hiroshi ; Ozaki, Mamoru ; Kato, Maki ; Kato, Takema ; Hosoba, Eriko ; Kurahashi, Hiroki. / Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome. In: Journal of Obstetrics and Gynaecology Research. 2018 ; Vol. 44, No. 7. pp. 1313-1317.
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Yamaguchi, T, Yamaguchi, M, Akeno, K, Fujisaki, M, Sumiyoshi, K, Ohashi, M, Sameshima, H, Ozaki, M, Kato, M, Kato, T, Hosoba, E & Kurahashi, H 2018, 'Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome', Journal of Obstetrics and Gynaecology Research, vol. 44, no. 7, pp. 1313-1317. https://doi.org/10.1111/jog.13647

Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome. / Yamaguchi, Tomoko; Yamaguchi, Masatoshi; Akeno, Keiko; Fujisaki, Midori; Sumiyoshi, Kaeko; Ohashi, Masanao; Sameshima, Hiroshi; Ozaki, Mamoru; Kato, Maki; Kato, Takema; Hosoba, Eriko; Kurahashi, Hiroki.

In: Journal of Obstetrics and Gynaecology Research, Vol. 44, No. 7, 01.07.2018, p. 1313-1317.

Research output: Contribution to journalArticle

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AU - Yamaguchi, Masatoshi

AU - Akeno, Keiko

AU - Fujisaki, Midori

AU - Sumiyoshi, Kaeko

AU - Ohashi, Masanao

AU - Sameshima, Hiroshi

AU - Ozaki, Mamoru

AU - Kato, Maki

AU - Kato, Takema

AU - Hosoba, Eriko

AU - Kurahashi, Hiroki

PY - 2018/7/1

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N2 - Premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome is a rare genetic disorder. In this case report, we describe the prenatal diagnosis of PCS/MVA syndrome in a 24-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (−5.0 standard deviations). Amniocentesis and chromosomal analysis confirmed PCS in 80% of cultured fetal cells. PCS findings were positive in 9% of paternal cells and 11% of maternal cells, indicative that both were PCS carriers. Genetic analysis confirmed that the fetus carried a combined heterozygote of maternal G > A point mutation of the promoter area of the BUB1B gene and a paternal Alu sequence insertion between intron 8 and exon 9 of the BUB1B gene. As PCS/MVA syndrome is associated with the development of various malignancies in early life, prenatal diagnosis is important for effective planning of post-natal care.

AB - Premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome is a rare genetic disorder. In this case report, we describe the prenatal diagnosis of PCS/MVA syndrome in a 24-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (−5.0 standard deviations). Amniocentesis and chromosomal analysis confirmed PCS in 80% of cultured fetal cells. PCS findings were positive in 9% of paternal cells and 11% of maternal cells, indicative that both were PCS carriers. Genetic analysis confirmed that the fetus carried a combined heterozygote of maternal G > A point mutation of the promoter area of the BUB1B gene and a paternal Alu sequence insertion between intron 8 and exon 9 of the BUB1B gene. As PCS/MVA syndrome is associated with the development of various malignancies in early life, prenatal diagnosis is important for effective planning of post-natal care.

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