Cargando…

1q21.1 microduplication in a patient with mental impairment and congenital heart defect

1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple...

Descripción completa

Detalles Bibliográficos
Autores principales:	SUN, GUOWEN, TAN, ZHIPING, FAN, LIANGLIANG, WANG, JIAN, YANG, YIFENG, ZHANG, WEIZHI
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2015
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581767/ https://www.ncbi.nlm.nih.gov/pubmed/26238956 http://dx.doi.org/10.3892/mmr.2015.4166

Ejemplares similares

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

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

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

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

Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report
por: Chen, Shuang, et al.
Publicado: (2020)

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

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

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

Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease
por: Liu, Zhenghua, et al.
Publicado: (2017)

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
por: León, Luis E., et al.
Publicado: (2017)

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

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

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
por: Soemedi, Rachel, et al.
Publicado: (2012)

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

Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1
por: Pang, Hui, et al.
Publicado: (2020)

Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2
por: Puvabanditsin, Surasak, 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)

Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders
por: Yoon, Joy, et al.
Publicado: (2021)

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

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

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
por: Busè, Martina, et al.
Publicado: (2017)

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

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

A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
por: Bouariu, Alexandra, 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 diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
por: Wan, Shanning, et al.
Publicado: (2019)

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies
por: Ji, Xiuqing, et al.
Publicado: (2018)

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
por: Sønderby, Ida E., et al.
Publicado: (2021)

Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome
por: Yang, Rencong, et al.
Publicado: (2022)

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

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

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

A novel insertion ins(18;5)(q21.1;q31.2q35.1) in acute myeloid leukemia associated with microdeletions at 5q31.2, 5q35.1q35.2 and 18q12.3q21.1 detected by oligobased array comparative genomic hybridization
por: Kjeldsen, Eigil
Publicado: (2014)

AMPK signaling linked to the schizophrenia-associated 1q21.1 deletion is required for neuronal and sleep maintenance
por: Nagy, Stanislav, et al.
Publicado: (2018)

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)

Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer
por: Cheng, Xiaoqing, et al.
Publicado: (2022)

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)

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes
por: Luukkonen, Tiia Maria, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_3842ko1js64he5e2h3bsd9k4ot