Yamaguchi Tomoko, Yamaguchi Masatoshi, Akeno Keiko, Fujisaki Midori, Sumiyoshi Kaeko, Ohashi Masanao, Sameshima Hiroshi, Ozaki Mamoru, Kato Maki, Kato Takema, Hosoba Eriko, Kurahashi Hiroki
Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Division of Clinical Genetics, University of Miyazaki Hospital, Miyazaki, Japan.
J Obstet Gynaecol Res. 2018 Jul;44(7):1313-1317. doi: 10.1111/jog.13647. Epub 2018 Apr 19.
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.
早发性染色单体分离/嵌合性杂色非整倍体（PCS/MVA）综合征是一种罕见的遗传性疾病。在本病例报告中，我们描述了一名24岁、孕1产1的女性，在孕中期因胎儿生长受限和极度小头畸形（-5.0标准差）转诊至我院，对其进行了PCS/MVA综合征的产前诊断。羊水穿刺和染色体分析证实80%的培养胎儿细胞存在早发性染色单体分离。早发性染色单体分离在9%的父系细胞和11%的母系细胞中呈阳性，表明二者均为早发性染色单体分离携带者。基因分析证实，胎儿携带BUB1B基因启动子区域的母系G>A点突变与父系BUB1B基因第8内含子和第9外显子之间的Alu序列插入的复合杂合子。由于PCS/MVA综合征与生命早期各种恶性肿瘤的发生有关，产前诊断对于有效规划产后护理非常重要。
