Cargando…

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

OBJECTIVE: To share our experience on prenatal diagnosis of 7q11.23 microduplication syndrome and to further delineate the fetal phenotypes of the syndrome. METHODS: A retrospective study was conducted to evaluate seven cases of dup7q11.23 syndrome diagnosed prenatally by chromosomal microarray (CMA...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Yunan, Liu, Chang, Hu, Rong, Geng, Juan, Lu, Jian, Zhao, Xin, Xiong, Ying, Wu, Jing, Yin, Aihua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523695/ https://www.ncbi.nlm.nih.gov/pubmed/37759207 http://dx.doi.org/10.1186/s13023-023-02923-y

Ejemplares similares

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
por: Dentici, Maria Lisa, et al.
Publicado: (2020)

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability
por: Pinelli, Michele, et al.
Publicado: (2020)

Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion
por: Birca, Veronica, et al.
Publicado: (2022)

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
por: Dutra, Roberta Lelis, et al.
Publicado: (2011)

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
por: Qaiser, Farah, et al.
Publicado: (2021)

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
por: Lv, Xin, et al.
Publicado: (2023)

High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons
por: Cavallo, Francesca, et al.
Publicado: (2020)

LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
por: Muthusamy, Karthik, et al.
Publicado: (2020)

A Polymer Physics Investigation of the Architecture of the Murine Orthologue of the 7q11.23 Human Locus
por: Chiariello, Andrea M., et al.
Publicado: (2017)

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
por: Valencia-Peña, Claudia, et al.
Publicado: (2020)

A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome
por: Gregory, Michael D., et al.
Publicado: (2018)

Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype
por: Song, Jieping, et al.
Publicado: (2022)

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency
por: Giordano, Mara, et al.
Publicado: (2016)

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
por: Yue, Fagui, et al.
Publicado: (2023)

Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant
por: Krishnamurthy, Kritika, et al.
Publicado: (2019)

Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics
por: Cupaioli, Francesca Anna, et al.
Publicado: (2021)

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report
por: Donabedian, Patrick L., et al.
Publicado: (2022)

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
por: López-Tobón, Alejandro, et al.
Publicado: (2023)

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models
por: Deurloo, Marielle H. S., et al.
Publicado: (2018)

Spatiotemporal 7q11.23 protein network analysis implicates the role of DNA repair pathway during human brain development
por: Chen, Liang, et al.
Publicado: (2021)

Detection of 22q11.2 microduplication by cell‐free DNA screening and chromosomal microarray in fetus with multiple anomalies
por: Wu, W.‐J., et al.
Publicado: (2016)

Phenotype Heterogeneity in 3q29 Microduplication Syndrome
por: STREATA, IOANA, et al.
Publicado: (2020)

A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23
por: Bayrakli, Fatih, et al.
Publicado: (2014)

Characteristics and Prognosis of 8p11.23-Amplified Squamous Lung Carcinomas
por: Voutsadakis, Ioannis A.
Publicado: (2023)

Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
por: Wan, Shanning, et al.
Publicado: (2019)

Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
por: Lin, Chen-Zhao, et al.
Publicado: (2019)

Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report
por: Tritto, Giovanna, et al.
Publicado: (2021)

Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe
por: Morris, Colleen A, et al.
Publicado: (2011)

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
por: Cai, Meiying, et al.
Publicado: (2022)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
por: Guo, Nan, et al.
Publicado: (2023)

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
por: Ben-Mahmoud, Afif, et al.
Publicado: (2023)

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
por: Ben-Mahmoud, Afif, et al.
Publicado: (2023)

DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number
por: Strong, Emma, et al.
Publicado: (2023)

A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report
por: Fu, Dalin, et al.
Publicado: (2021)

8p11.23 Amplification in Breast Cancer: Molecular Characteristics, Prognosis and Targeted Therapy
por: Voutsadakis, Ioannis A.
Publicado: (2020)

Distal 22q11.2 Microduplication: Case Report and Review of the Literature
por: Pinchefsky, Elana, et al.
Publicado: (2017)

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control
por: Frohnauer, Judith, et al.
Publicado: (2010)

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome
por: Cai, Meiying, et al.
Publicado: (2022)

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
por: Huang, Xiuzhu, et al.
Publicado: (2021)

Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication
por: Zanella, Matteo, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_kfmdsffqurg31aa7bgjn2ak94g