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 language | English |
|---|---|
| Pages (from-to) | 1313-1317 |
| Number of pages | 5 |
| Journal | Journal of Obstetrics and Gynaecology Research |
| Volume | 44 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - 01-07-2018 |
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All Science Journal Classification (ASJC) codes
- Obstetrics and Gynaecology
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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 journal › Article
TY - JOUR
T1 - Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome
AU - Yamaguchi, Tomoko
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
Y1 - 2018/7/1
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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U2 - 10.1111/jog.13647
DO - 10.1111/jog.13647
M3 - Article
VL - 44
SP - 1313
EP - 1317
JO - Journal of Obstetrics and Gynaecology Research
JF - Journal of Obstetrics and Gynaecology Research
SN - 1341-8076
IS - 7
ER -