Medical Genetic Center, Guangdong Women and Children Hospital, NO.521-523, Xingnan Road, Panyu District, Guangzhou, 511442, Guangdong, People's Republic of China.
Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 510010, Guangdong, People's Republic of China.
Orphanet J Rare Dis. 2023 Sep 27;18(1):305. doi: 10.1186/s13023-023-02923-y.
To share our experience on prenatal diagnosis of 7q11.23 microduplication syndrome and to further delineate the fetal phenotypes of the syndrome.
A retrospective study was conducted to evaluate seven cases of dup7q11.23 syndrome diagnosed prenatally by chromosomal microarray (CMA). Clinical data were reviewed, including maternal characteristics, indications for prenatal diagnosis, sonographic findings, CMA results, pregnancy outcomes and follow-ups.
Seven cases, including 2 pairs of MCDA twins, were prenatally identified with dup7q11.23 syndrome. The most common prenatal sonographic features were ventriculomegaly, low-lying conus medullaris, and dilated ascending aorta. All 7 fetuses presented with typical 7q11.23 duplications (1.40-1.55 Mb). Parental chromosome analysis was performed in four pairs of parents, and indicated that the duplications of Case 6 and 7 were inherited from their asymptomatic mother.
Our case series suggest that prenatal features of dup7q11.23 cases are diversified, with ventriculomegaly and low-lying conus medullaris being the most common intrauterine phenotypes. Additionally, cleft palate, dilated ascending aorta, and renal abnormalities were also observed, and should be taken into consideration in subsequent studies.
分享我们在产前诊断 7q11.23 微重复综合征方面的经验，并进一步阐述该综合征的胎儿表型。
对通过染色体微阵列（CMA）产前诊断的 7 例 dup7q11.23 综合征进行回顾性研究。回顾分析了临床资料，包括母体特征、产前诊断指征、超声表现、CMA 结果、妊娠结局和随访情况。
7 例中包括 2 对 MCDA 双胞胎，产前诊断为 dup7q11.23 综合征。最常见的产前超声特征是脑室扩大、脊髓圆锥低位和升主动脉扩张。7 例胎儿均表现出典型的 7q11.23 重复（1.40-1.55 Mb）。对 4 对父母进行了染色体分析，结果表明 6 号和 7 号病例的重复是从无症状的母亲那里遗传的。
我们的病例系列表明，dup7q11.23 病例的产前特征多样化，以脑室扩大和脊髓圆锥低位最为常见。此外，还观察到腭裂、升主动脉扩张和肾脏异常，在后续研究中应予以考虑。
