Cargando…

Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Chromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Shuang, Yu, Yang, Zhang, Han, Li, Leilei, Jiang, Yuting, Liu, Ruizhi, Zhang, Hongguo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	De Gruyter 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718637/ https://www.ncbi.nlm.nih.gov/pubmed/33336067 http://dx.doi.org/10.1515/med-2020-0199

Ejemplares similares

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

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review
por: Zhang, Hongguo, et al.
Publicado: (2021)

Identification of 1q21.1 microduplication in a family: A case report
por: Huang, Ting-Ting, et al.
Publicado: (2023)

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome
por: Benítez-Burraco, Antonio, et al.
Publicado: (2018)

1q21.1 microduplication in a patient with mental impairment and congenital heart defect
por: SUN, GUOWEN, et al.
Publicado: (2015)

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication
por: Wang, Hong‐Dan, et al.
Publicado: (2017)

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

Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland
por: Clark, Jeremy S. C., et al.
Publicado: (2022)

Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review
por: Zhang, Xinyue, et al.
Publicado: (2021)

Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia
por: Ma, Yuanlin, et al.
Publicado: (2015)

Prenatal detection of a 7q11.21 microdeletion (517–605 kb): A variant with normal characteristics at birth (STROBE)
por: Zhang, Hongguo, et al.
Publicado: (2021)

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
por: Schnabel, Franziska, et al.
Publicado: (2018)

Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign
por: Yue, Fagui, et al.
Publicado: (2021)

1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number
por: Xavier, Jean, et al.
Publicado: (2018)

Prenatal Diagnosis and Genetic Analysis of 21q21.1–q21.2 Aberrations in Seven Chinese Pedigrees
por: Hu, Huamei, et al.
Publicado: (2021)

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects
por: Iourov, Ivan Y., et al.
Publicado: (2018)

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss
por: Iossa, Sandra, et al.
Publicado: (2015)

Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign
por: Yue, Fagui, et al.
Publicado: (2022)

Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series
por: Yue, Fagui, et al.
Publicado: (2019)

Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation
por: Wen, Xiaohui, et al.
Publicado: (2022)

A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited
por: Jin, Chunyan, et al.
Publicado: (2021)

Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome
por: Alzarka, Bakri, et al.
Publicado: (2018)

18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction
por: Obara, Koji, et al.
Publicado: (2023)

A Case of Psoriatic Disease and Hidradenitis Suppurativa in a Child with Chromosome 17q21.31 Microduplication Syndrome
por: Tolino, Ersilia, et al.
Publicado: (2023)

Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition
por: Migdalska, Anna M., et al.
Publicado: (2012)

A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review
por: Almuzzaini, Bader, et al.
Publicado: (2020)

Prenatal diagnosis and ultrasonographic findings of partial trisomy of chromosome 6q: A case report and review of the literature
por: Li, Linlin, et al.
Publicado: (2021)

Correction: Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition
por: Migdalska, Anna M., et al.
Publicado: (2012)

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
por: Halperin, Daniel, et al.
Publicado: (2022)

On the Wegener granulomatosis associated region on chromosome 6p21.3
por: Szyld, Paweł, et al.
Publicado: (2006)

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
por: Dell’Edera, Domenico, et al.
Publicado: (2021)

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)

1q21.1 Duplication syndrome and epilepsy: Case report and review
por: Gourari, Ioulia, et al.
Publicado: (2018)

Understanding the impact of 1q21.1 copy number variant
por: Harvard, Chansonette, et al.
Publicado: (2011)

Loss of heterozygosity for chromosomal regions 15q14-21.1, 17q21.31, and 13q12.3-13.1 and its relevance for prostate cancer
por: Nowacka-Zawisza, Maria, et al.
Publicado: (2015)

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia
por: Purandare, Smita M, et al.
Publicado: (2008)

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
por: Ambrosetti, Irene, et al.
Publicado: (2023)

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1
por: Jaworek, Thomas J., et al.
Publicado: (2012)

Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature
por: Zhang, Hongguo, et al.
Publicado: (2018)

Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A
por: Spena, Silvia, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_6kuk5qrlsifmss8eg848es0hi7