Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2026
[Analysis of the prenatal and postnatal clinical features of six cases of Williams syndrome and a literature review].
СтатьяОбзорКлинический случайАннотация на английскомНазвание и аннотация: Перевод в очереди
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Liu Xinyue, Wang Xiaoyan, Sun Dan, Li Qiongyan, Liu Jingyue, Huang Pujie
Аннотация
OBJECTIVE: To review the clinical data of six cases of Williams syndrome (WS) and analyze the prenatal and postnatal diagnostic indications, genetic characteristics, and clinical manifestations, and review the relevant literature.
METHODS: Six cases of WS diagnosed at Maternal and Child Health Care Hospital of Hubei Province between January 2023 and December 2025 were selected as study subjects. Clinical data were collected, and chromosomal karyotyping, chromosomal microarray analysis (CMA), copy number variation sequencing (CNV-seq), and whole exome sequencing (WES) were carried out. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2026-146-01).
RESULTS: All of the six cases were found to have a deletion in the 7q11.23 region, with a size ranging from 0.75 Mb to 1.59 Mb. Indications for prenatal diagnosis included lateral ventricle enlargement (1 case), interrupted inferior vena cava (1 case), duodenal atresia (1 case), previous history of fetal growth retardation (1 case), and high-risk signaled by non-invasive prenatal testing (1 case). Family verification showed that in two cases the deletions were inherited from the mother, and in one case it was de novo. For the remaining three cases, parental verification was refused. A child diagnosed after birth carried a de novo 1.43 Mb deletion and presented with global developmental delay, dysmorphic facial features, and complex cardiac malformations.
CONCLUSION: The prenatal manifestations of WS are diverse and non-specific. For cases with primary fetal growth retardation, cardiac structural abnormalities, and high-risk by NIPT, prenatal genetic testing should be recommended. Family verification can clarify the parental origin and assess the recurrence risk. Genetic techniques such as CNV-seq, CMA, and WES are of great value for the individualized management of affected children.
METHODS: Six cases of WS diagnosed at Maternal and Child Health Care Hospital of Hubei Province between January 2023 and December 2025 were selected as study subjects. Clinical data were collected, and chromosomal karyotyping, chromosomal microarray analysis (CMA), copy number variation sequencing (CNV-seq), and whole exome sequencing (WES) were carried out. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2026-146-01).
RESULTS: All of the six cases were found to have a deletion in the 7q11.23 region, with a size ranging from 0.75 Mb to 1.59 Mb. Indications for prenatal diagnosis included lateral ventricle enlargement (1 case), interrupted inferior vena cava (1 case), duodenal atresia (1 case), previous history of fetal growth retardation (1 case), and high-risk signaled by non-invasive prenatal testing (1 case). Family verification showed that in two cases the deletions were inherited from the mother, and in one case it was de novo. For the remaining three cases, parental verification was refused. A child diagnosed after birth carried a de novo 1.43 Mb deletion and presented with global developmental delay, dysmorphic facial features, and complex cardiac malformations.
CONCLUSION: The prenatal manifestations of WS are diverse and non-specific. For cases with primary fetal growth retardation, cardiac structural abnormalities, and high-risk by NIPT, prenatal genetic testing should be recommended. Family verification can clarify the parental origin and assess the recurrence risk. Genetic techniques such as CNV-seq, CMA, and WES are of great value for the individualized management of affected children.