Prenatal diagnosis of a de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis and right clubfoot on prenatal ultrasound

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS

ACS Applied Bio Materials Pub Date : 2024-07-01 DOI:10.1016/j.tjog.2024.05.008

Chih-Ping Chen , Chen-Yu Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Wayseen Wang

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引用次数: 0

Abstract

Objective

We present prenatal diagnosis of de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis on prenatal ultrasound.

Case Report

A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Level II ultrasound at 22 weeks of gestation revealed bilateral hydronephrosis and right clubfoot. At 23 weeks of gestation, repeat amniocentesis revealed the result of arr [GRCh37] 10p12.1p11.23 (26,182,512–29,826,276) × 1 dn with a 3.6-Mb microdeletion of 10p12.1p11.23 encompassing the genes of MYO3A, GAD2, APBB1IP, PDSS1, ABI1, ANKRD26, YME1L1, MASTL, ACBD5, PTCHD3, RAB18, MKX, ODAD2, MPP7, WAC and BAMBI. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of low-set ears, broad forehead and flat nasal bridge. Array comparative genomic hybridization (aCGH) analysis of umbilical cord confirmed a 3.6-Mb 10p12.1p11.23 microdeletion encompassing WAC.

Conclusion

Application of aCGH is useful in the pregnancy with a normal fetal karyotype and abnormal fetal ultrasound.

查看原文本刊更多论文

产前超声诊断胎儿患有新发 10p12.1p11.23 微缺失，包含 WAC 基因，并伴有双侧肾积水和右足癣

病例报告：一名 40 岁的高龄产妇在妊娠 17 周时接受了羊水穿刺。羊水穿刺显示核型为 46,XY。妊娠 22 周时，二级超声波检查发现双侧肾积水和右足癣。在妊娠 23 周时，重复羊膜腔穿刺术发现了[GRCh37] 10p12.1p11.23 (26,182,512-29,826,276) × 1 dn 的结果，10p12.1p11.23 包含一个 3.6-Mb 的微缺失。1p11.23 包含 MYO3A、GAD2、APBB1IP、PDSS1、ABI1、ANKRD26、YME1L1、MASTL、ACBD5、PTCHD3、RAB18、MKX、ODAD2、MPP7、WAC 和 BAMBI 基因。该患者随后终止妊娠，产下一名畸形胎儿，该胎儿面部畸形，耳朵低垂，前额宽阔，鼻梁扁平。脐带的阵列比较基因组杂交（aCGH）分析证实了一个包含WAC的3.6-Mb 10p12.1p11.23微缺失。

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来源期刊

ACS Applied Bio Materials Chemistry-Chemistry (all)

CiteScore

9.40

自引率

2.10%

发文量

464