Cargando…

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report

BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and T...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wessel, Karen, Suleiman, Jehan, Khalaf, Tamam E., Kishore, Shivendra, Rolfs, Arndt, El-Hattab, Ayman W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657100/ https://www.ncbi.nlm.nih.gov/pubmed/29070031 http://dx.doi.org/10.1186/s12881-017-0479-3

Ejemplares similares

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome
por: Desch, Laurent, et al.
Publicado: (2015)

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
por: Chen, Rongyu, et al.
Publicado: (2014)

Genome-wide scan for hypertension linkage to chromosome 12q23.1 - q23.3 in a Chinese family
por: Dong, Yan, et al.
Publicado: (2013)

de novo interstitial deletions at the 11q23.3-q24.2 region
por: Su, Jiasun, et al.
Publicado: (2016)

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers
por: Ghorbanoghli, Z., et al.
Publicado: (2016)

A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
por: Barola, Sindhu, et al.
Publicado: (2022)

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
por: Li, Qi, et al.
Publicado: (2015)

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion
por: Hoshina, Takao, et al.
Publicado: (2019)

Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
por: Gunther, Kathryn, et al.
Publicado: (2021)

Polymorphisms of the 11q23.3 Locus Affect the Risk and Mortality of Coronary Artery Disease
por: Iwanicki, Tomasz, et al.
Publicado: (2022)

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

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
por: Srebniak, Malgorzata I., et al.
Publicado: (2016)

Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay
por: Hao, Dongmei, et al.
Publicado: (2021)

Intracranial Aneurysm Risk Locus 5q23.2 Is Associated with Elevated Systolic Blood Pressure
por: Gaál, Emília Ilona, et al.
Publicado: (2012)

Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
por: Gana, Simone, et al.
Publicado: (2019)

Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin’s Lymphoma
por: Frampton, Matthew, et al.
Publicado: (2013)

A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features
por: Türkyılmaz, A, et al.
Publicado: (2020)

Overexpression of the proneural transcription factor ASCL1 in chronic lymphocytic leukemia with a t(12;14)(q23.2;q32.3)
por: Malli, Theodora, et al.
Publicado: (2018)

A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4
por: Chou, Wen-Cheng, et al.
Publicado: (2022)

Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia
por: Mellone, Simona, et al.
Publicado: (2022)

Fine Mapping of a Region of Chromosome 11q23.3 Reveals Independent Locus Associated with Risk of Glioma
por: Chen, Hongyan, et al.
Publicado: (2012)

Quantitative trait loci at the 11q23.3 chromosomal region related to dyslipidemia in the population of Andhra Pradesh, India
por: Pranavchand, Rayabarapu, et al.
Publicado: (2017)

Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
por: Leary, Steven, et al.
Publicado: (2019)

Identification of prefoldin amplification (1q23.3-q24.1) in bladder cancer using comparative genomic hybridization (CGH) arrays of urinary DNA
por: López, Virginia, et al.
Publicado: (2013)

Genome-wide association study identifies two new susceptibility loci for colorectal cancer at 5q23.3 and 17q12 in Han Chinese
por: Jiang, Kewei, et al.
Publicado: (2015)

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
por: Lo-A-Njoe, Shirley, et al.
Publicado: (2016)

Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion
por: Song, Jiahao, et al.
Publicado: (2021)

A novel acquired inv(2)(p23.3q24.3) with concurrent submicroscopic deletions at 2p23.3, 2p22.1, 2q24.3 and 1p13.2 in a patient with chronic thrombocytopenia and anemia
por: Kjeldsen, Eigil
Publicado: (2015)

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family
por: Shi, Panlai, et al.
Publicado: (2021)

Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization
por: Liu, Nian, et al.
Publicado: (2014)

Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility
por: Baskin, Rebekah, et al.
Publicado: (2015)

23.3 DEVELOPMENTAL TRAJECTORIES OF SCHIZOPHRENIA-RELEVANT ABNORMALITIES IN A MOUSE MODEL OF 22Q11.2 DELETION SYNDROME
por: Ciampoli, Mariasole, et al.
Publicado: (2018)

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing
por: Karamysheva, Tatyana V., et al.
Publicado: (2022)

Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts
por: Talseth-Palmer, Bente A, et al.
Publicado: (2012)

Characterization of a de Novo Constitutional Balanced Translocation t (2;11)(q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo
por: KARIMZADHAGH, Javad, et al.
Publicado: (2018)

SKCG-1: a new candidate growth regulatory gene at chromosome 11q23.2 in human sporadic Wilms tumours
por: Singh, K P, et al.
Publicado: (2006)

Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene
por: Luo, Man, et al.
Publicado: (2022)

ATM function and its relationship with ATM gene mutations in chronic lymphocytic leukemia with the recurrent deletion (11q22.3-23.2)
por: Jiang, Y, et al.
Publicado: (2016)

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
por: Sowińska-Seidler, Anna, et al.
Publicado: (2018)

Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H
por: Pittman, Alan M., et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_iv16qppvgg0m5prm31fleu3dbo