Cargando…

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion

(1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive prenatal diagnoses from 1 January 2017 to 1 August 2022. These 4698 pregnan...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, You, Zhou, Hang, Fu, Fang, Cheng, Ken, Yu, Qiuxia, Huang, Ruibin, Lei, Tingying, Yang, Xin, Li, Dongzhi, Liao, Can
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778018/ https://www.ncbi.nlm.nih.gov/pubmed/36553582 http://dx.doi.org/10.3390/genes13122315

Ejemplares similares

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2
por: Li, Meihua, 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 and Outcomes in Fetuses with Hemivertebra
por: Zhou, Hang, et al.
Publicado: (2022)

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
por: Huang, Ruibin, et al.
Publicado: (2022)

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)

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
por: Blagowidow, Natalie, et al.
Publicado: (2023)

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family
por: Tang, Wenjuan, 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)

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2
por: Walters, R. G., et al.
Publicado: (2010)

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome
por: Li, Shuyuan, et al.
Publicado: (2019)

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)

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
por: Termsarasab, Pichet, et al.
Publicado: (2014)

16p11.2 microdeletion syndrome: a case report
por: Dell’Edera, D., et al.
Publicado: (2018)

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

Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
por: Ventura, Mara, et al.
Publicado: (2019)

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
por: Chen, Yu-Lan, et al.
Publicado: (2022)

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

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
por: Genesio, Rita, et al.
Publicado: (2018)

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
por: Halder, Ashutosh, et al.
Publicado: (2012)

Contribution of mGluR5 to hippocampal pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
por: Tian, Di, et al.
Publicado: (2015)

Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review
por: Stingl, Cybil S., et al.
Publicado: (2020)

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
por: Halder, Ashutosh, et al.
Publicado: (2008)

Age‐Related Parkinsonian Signs in Microdeletion 22q11.2
por: Boot, Erik, et al.
Publicado: (2020)

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

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

Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow‐up study of four Chinese children carriers
por: Xie, Hua, et al.
Publicado: (2020)

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
por: Rosenfeld, Jill A., et al.
Publicado: (2009)

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
por: Szelest, Monika, et al.
Publicado: (2021)

TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model
por: Scharrenberg, Robin, et al.
Publicado: (2022)

Neuroanatomical Phenotypes in a Mouse Model of the 22q11.2 Microdeletion
por: Ellegood, J., et al.
Publicado: (2013)

Failure to thrive as presentation in a patient with 22q11.2 microdeletion
por: Bossi, Grazia, et al.
Publicado: (2016)

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels
por: Karbarz, Małgorzata
Publicado: (2020)

22q11.2 microdeletion and increased risk for type 2 diabetes
por: Van, Lily, et al.
Publicado: (2020)

Genotypic and phenotypic variability of 22q11.2 microdeletions – an institutional experience
por: Manno, Gabrielle C., et al.
Publicado: (2021)

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
por: Rodan, Lance H., et al.
Publicado: (2016)

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development
por: Roth, Julien G, et al.
Publicado: (2020)

Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion
por: Yang, Yifei, et al.
Publicado: (2023)

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
por: Nouri, Narges, et al.
Publicado: (2016)

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2
por: Boot, Erik, et al.
Publicado: (2018)

Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion
por: Tan, Qiming, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_gbu2quoq1ubnd7dna97seo1dd1