Cargando…

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

BACKGROUND: There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Ruibin, Zhou, Hang, Fu, Fang, Li, Ru, Lei, Tingying, Li, Yingsi, Cheng, Ken, Wang, You, Yang, Xin, Li, Lushan, Jing, Xiangyi, Zhang, Yongling, Li, Fucheng, Li, Dongzhi, Liao, Can
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9238061/ https://www.ncbi.nlm.nih.gov/pubmed/35765027 http://dx.doi.org/10.1186/s13039-022-00604-2

Ejemplares similares

Should prenatal chromosomal microarray analysis be offered for isolated ventricular septal defect? A single-center retrospective study from China
por: Cheng, Ken, et al.
Publicado: (2022)

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations
por: Wang, You, et al.
Publicado: (2023)

Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study
por: Huang, Ruibin, et al.
Publicado: (2022)

Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra
por: Zhou, Hang, et al.
Publicado: (2022)

Should Prenatal Chromosomal Microarray Analysis Be Offered for Pulmonary Atresia? A Single-Center Retrospective Study in China
por: Wang, You, et al.
Publicado: (2023)

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
por: Wang, You, et al.
Publicado: (2022)

Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients
por: Xia, Yu, et al.
Publicado: (2018)

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
por: Marcato, Livia, et al.
Publicado: (2014)

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses
por: Fu, Fang, et al.
Publicado: (2022)

Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing
por: Fu, Fang, et al.
Publicado: (2022)

The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study
por: Zhou, Hang, et al.
Publicado: (2022)

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype
por: Tordjman, Sylvie, et al.
Publicado: (2012)

PDIA2 variant associated with vitiligo
por: Li, Fucheng, et al.
Publicado: (2023)

Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review
por: Wang, Yunan, et al.
Publicado: (2023)

Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China
por: Zhou, Yanhong, et al.
Publicado: (2023)

Oral findings in Williams-Beuren syndrome
por: Ferreira, Shirlene-Barbosa-Pimentel, et al.
Publicado: (2018)

Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice
por: Li, Hong Hua, et al.
Publicado: (2009)

Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy
por: Tsagkas, Nikolaos, et al.
Publicado: (2023)

Clinical and genetic characteristics of two cases with Williams-Beuren syndrome
por: Wang, Liu-Xu, et al.
Publicado: (2021)

Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature
por: Lei, Tingying, et al.
Publicado: (2023)

Williams-Beuren's Syndrome: A Case Report
por: Zamani, Hassan, et al.
Publicado: (2012)

Endocrine dysfunctions in children with Williams-Beuren syndrome
por: Kim, Yoon-Myung, et al.
Publicado: (2016)

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
por: Masson, Julie, et al.
Publicado: (2019)

Williams-Beuren Syndrome: A Case Confirmed by Array-CGH Method
por: Jiang, MinYan, et al.
Publicado: (2015)

Prenatal diagnosis and perinatal outcomes of twin pregnancies disharmonious for one fetus with nuchal translucency above the 95th percentile
por: Wang, You, et al.
Publicado: (2023)

DNA damage response defect in Williams-Beuren syndrome
por: Guenat, David, et al.
Publicado: (2017)

Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy
por: Kalis, Neale Nicola, et al.
Publicado: (2017)

Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview
por: Ferrari, Marta, et al.
Publicado: (2021)

Has Your Physician Heard of Williams-Beuren Syndrome?
por: Alquran, Lance, et al.
Publicado: (2020)

Williams–Beuren syndrome shapes the gut microbiota metaproteome
por: Marzano, Valeria, et al.
Publicado: (2023)

Genetic diagnosis of fetal microcephaly at a single tertiary center in China
por: Wang, You, et al.
Publicado: (2023)

Chromosomal microarray analysis in the prenatal diagnosis of orofacial clefts: Experience from a single medical center in mainland China
por: Jin, Han, et al.
Publicado: (2018)

Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting
por: Lumaka, Aimé, et al.
Publicado: (2016)

MON-253 Severe Infantile Hypercalcemia in Williams-Beuren Syndrome
por: Nasir, Hamza, et al.
Publicado: (2019)

A case report of interventricular hemorrhage in William-Beuren syndrome
por: Alghobaishi, Abdullah, et al.
Publicado: (2022)

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
por: Huryn, Laryssa A, et al.
Publicado: (2023)

Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
por: Kimura, Ryo, et al.
Publicado: (2018)

Altered Neocortical Dynamics in a Mouse Model of Williams–Beuren Syndrome
por: Dasilva, Miguel, et al.
Publicado: (2019)

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome
por: Codina-Sola, Marta, et al.
Publicado: (2019)

Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders
por: Zhou, Jianrong, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_11582mv1mleqhnvo81ou3otv76