Cargando…

A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss

17p13 is a chromosomal region characterized by genomic instability due to high gene density leading to multiple deletion and duplication events. 17p13.3 microduplication syndrome is a rare condition, reported only in 40 cases worldwide, which is found in the Miller–Dieker chromosomal region, present...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vittas, Spiros, Bisba, Maria, Christopoulou, Georgia, Apostolakopoulou, Loukia, Pons, Roser, Constantoulakis, Pantelis
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379727/ https://www.ncbi.nlm.nih.gov/pubmed/37510238 http://dx.doi.org/10.3390/genes14071333

Ejemplares similares

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication
por: Tolezano, Giovanna Cantini, et al.
Publicado: (2020)

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication
por: Da Silva, Jorge Diogo, et al.
Publicado: (2022)

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
por: Blazejewski, Sara M., et al.
Publicado: (2018)

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
por: Markova, Zhanna G., 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)

Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplication
por: Yang, Yung-Yu, et al.
Publicado: (2022)

Recurrent 17q12 microduplications contribute to renal disease but not diabetes
por: Cannon, Stuart, et al.
Publicado: (2023)

Prenatal Diagnosis of 17p13.1p13.3 Duplication
por: Kiiski, Kirsi, et al.
Publicado: (2012)

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

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
por: Hu, Jie, et al.
Publicado: (2017)

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders
por: Kokkonen, Hannaleena, et al.
Publicado: (2021)

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
por: Paduano, Francesco, et al.
Publicado: (2020)

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

Progressive Multifocal Leukoencephalopathy in Systemic Lupus Erythematosus: A Consequence of Patient-Intrinsic or -Extrinsic Factors?
por: Emmanouilidou, Evgenia, et al.
Publicado: (2023)

Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3
por: Kim, Young Jin, et al.
Publicado: (2011)

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

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

Correction: Sciacca, F. L., et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. Int. J. Mol. Sci. 2018, 19, 3675
por: Sciacca, Francesca Luisa, et al.
Publicado: (2019)

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition
por: Arbogast, Thomas, et al.
Publicado: (2017)

Microduplications of 16p11.2 are Associated with Schizophrenia
por: McCarthy, Shane, et al.
Publicado: (2009)

New microdeletion and microduplication syndromes: A comprehensive review
por: Nevado, Julián, et al.
Publicado: (2014)

Epilepsy phenotype in patients with Xp22.31 microduplication
por: Brinciotti, Mario, et al.
Publicado: (2018)

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
por: Tai, Derek J. C., et al.
Publicado: (2016)

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

A comprehensive list of human microdeletion and microduplication syndromes
por: Wetzel, Alyssa S., et al.
Publicado: (2022)

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

Trajectory of hearing loss in children with unilateral hearing loss
por: Fitzpatrick, Elizabeth M., et al.
Publicado: (2023)

Hearing rehabilitation of children and adolescents with unilateral hearing loss
por: Mattiazzi, Ângela Leusin, et al.
Publicado: (2022)

A Time-Calibrated Mitogenome Phylogeny of Catfish (Teleostei: Siluriformes)
por: Kappas, Ilias, et al.
Publicado: (2016)

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT
por: Cai, Guiqing, et al.
Publicado: (2008)

Molecular Analysis of a Myc Antagonist, ROX/Mnt, at 17p13.3 in Human Lung Cancers
por: Takahashi, Takao, et al.
Publicado: (1998)

17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant
por: Farris, Nicholas, et al.
Publicado: (2018)

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

16p13.11 microduplication including NDE1 gene in autism spectrum disorder: A case report
por: Moustakil, S., et al.
Publicado: (2023)

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
por: Koumbaris, George, et al.
Publicado: (2019)

Deletion 22q13.3 syndrome
por: Phelan, Mary C
Publicado: (2008)

4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report
por: Wu, Maolan, et al.
Publicado: (2020)

Microduplication of 3p26.3 Implicated in Cognitive Development
por: Te Weehi, Leah, et al.
Publicado: (2014)

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome
por: Reis, Filipa, et al.
Publicado: (2020)

Microdeletions and microduplications linked to severe congenital disorders in infertile men
por: Kikas, Triin, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_hhcad8dcmhm98vgd64nqsuj8m6