Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome

Orphanet Journal of Rare Diseases

Research

Rong Hu¹  Ying Xiong¹  Chang Liu¹  Jing Wu¹  Jian Lu¹  Xin Zhao¹  Yunan Wang¹  Aihua Yin¹  Juan Geng² 

[1] Medical Genetic Center, Guangdong Women and Children Hospital, NO.521-523, Xingnan Road, Panyu District, 511442, Guangzhou, Guangdong, People’s Republic of China;Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, People’s Republic of China;UItrasonic Diagnosis Deparment, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, People’s Republic of China;

关键词: dup7q11.23 syndrome;    Prenatal diagnosis;    Sonographic features;    Chromosomal microarray;   

DOI  :  10.1186/s13023-023-02923-y

 received in 2022-11-03, accepted in 2023-09-21,  发布年份 2023

来源: Springer

【 摘 要 】

ObjectiveTo share our experience on prenatal diagnosis of 7q11.23 microduplication syndrome and to further delineate the fetal phenotypes of the syndrome.MethodsA 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.ResultsSeven 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.ConclusionOur 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.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

【 图 表 】

13690_2023_1170_Article_IEq162.gif

Fig. 6