Department of Obstetrics and Gynaecology, University Medicine, Mainz, Germany.
Eur J Obstet Gynecol Reprod Biol. 2010 Jun;150(2):119-25. doi: 10.1016/j.ejogrb.2010.02.034. Epub 2010 Mar 7.
Unbalanced translocation 6p/16q in one fetus is a very rare event and the prenatal sonographic findings have never been published before. We will give a short overview of the literature along with a case report focussing on prenatal ultrasound features and molecular cytogenetic analysis.
A 21-year-old primigravid woman presented with a singleton pregnancy at 19 weeks' gestation. The fetus revealed a mild hydrocephalus, a ventricular septal defect (VSD), a Dandy-Walker malformation as well as an intrauterine growth retardation (IUGR) and limb anomalities. MLPA analysis from amniotic fluid cells showed an unbalanced translocation from the subtelomeric region of chromosome 6p to the subtelomeric region of chromosome 16q. Karyotype of the fetus was 46, XX.ishder(6)t(6;16)(p2?5;q?13)(pVYS246A+, pVYS228B-, pVYS229A+). Despite the karyotype the mother decided not to interrupt pregnancy. The fetus died in utero within the 39th week of gestation and was delivered vaginally after labour induction, with a birth weight of 1815g. Prenatal FISH and MLPA studies can be very important to help outline the chromosomal area of deletion and duplication and the sonographic findings forebode the cytogenetic region of interest. Subsequent to the processing of the case, a complete Medline search was conducted to review previous cases with similar genetic alterations.
6p/16q 不平衡易位在一个胎儿中是非常罕见的事件，产前超声表现以前从未发表过。我们将简要概述文献，并报告一个病例，重点介绍产前超声特征和分子细胞遗传学分析。
一名 21 岁的初产妇在妊娠 19 周时出现单胎妊娠。胎儿显示轻度脑积水、室间隔缺损 (VSD)、Dandy-Walker 畸形以及宫内生长迟缓 (IUGR) 和肢体异常。羊水细胞的 MLPA 分析显示，6p 端粒区域到 16q 端粒区域的不平衡易位。胎儿的核型为 46, XX.ishder(6)t(6;16)(p2?5;q?13)(pVYS246A+, pVYS228B-, pVYS229A+)。尽管核型异常，母亲还是决定不中断妊娠。胎儿在妊娠 39 周时死于宫内，并在分娩诱导后经阴道分娩，出生体重为 1815g。产前 FISH 和 MLPA 研究对于帮助概述缺失和重复的染色体区域非常重要，超声表现预示着感兴趣的细胞遗传学区域。在处理该病例后，进行了全面的 Medline 检索，以回顾以前具有类似遗传改变的病例。
