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首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion
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Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion

机译：Wolf-Hirschhorn（4p-）综合征：具有明显纯净4p缺失的胎儿的产前诊断，分子细胞遗传学特征以及与在8p22-p21.3处进行1.2-Mb微复制和在10p15.3处进行1.1-Mb微复制相关联

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Objective To present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS) associated with microduplications at 8p and 10p in a fetus with an apparently pure 4p deletion. Case Report A 35-year-old gravida 2, para 1 woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Her husband was 38 years of age. There was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(4p16.1). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis revealed a 6.5-Mb deletion at 4p16.3-p16.1, a 1.2-Mb microduplication at 8p22-p21.3, and a 1.1-Mb microduplication at 10p15.3, or arr cgh 4p16.3p16.1 (0–6,531,998?bp)×1, 8p22p21.3 (18,705,388–19,940,445?bp)×3, 10p15.3 (0–1,105,065?bp)×3. Polymorphic DNA marker analysis confirmed a paternal origin of 4p deletion. Prenatal ultrasound revealed facial dysmorphism and hypospadias. The aCGH analysis of the parents revealed no genomic imbalance. Fluorescence in situ hybridization study showed an unbalanced reciprocal translocation between chromosomes 4 and 10 at bands 4p16.1 and 10p15.3. The cytogenetic result, thus, was 46,XY,der(4)t(4;10)(p16.1;p15.3),dup(8)(p21.3p22). The parents elected to terminate the pregnancy, and a 470-g malformed fetus was delivered. Conclusion The present case provides evidence that an apparently pure 4p deletion can be associated with subtle chromosome imbalances in other chromosomes.
机译：目的介绍与明显重复的4p缺失的胎儿在8p和10p进行微复制相关的Wolf-Hirschhorn综合征（WHS）的产前诊断和分子细胞遗传学特征。病例报告一名35岁的gravida 2，第1段的妇女由于高龄孕妇在妊娠18周时接受了羊膜穿刺术。她的丈夫今年38岁。没有先天性畸形的家族史。羊膜穿刺术显示46，XY，del（4p16.1）的核型。亲本核型正常。阵列比较基因组杂交（aCGH）分析显示，在4p16.3-p16.1处缺失6.5 Mb，在8p22-p21.3处进行1.2-Mb微复制，在10p15.3处进行1.1-Mb微复制，或arr cgh 4p16 .3p16.1（0–6,531,998？bp）×1、8p22p21.3（18,705,388–19,940,445？bp）×3、10p15.3（0–1,105,065？bp）×3。多态性DNA标记分析证实了4p缺失的父系起源。产前超声检查发现面部畸形和尿道下裂。父母的aCGH分析显示没有基因组失衡。荧光原位杂交研究表明，在4p16.1和10p15.3波段，染色体4和10之间存在不平衡的相互易位。因此，细胞遗传学结果为46，XY，der（4）t（4; 10）（p16.1; p15.3），dup（8）（p21.3p22）。父母选择终止妊娠，并交付了470克畸形的胎儿。结论本案例提供了证据，表明显然纯的4p缺失可能与其他染色体中的细微染色体失衡有关。

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