Cargando…

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement

BACKGROUND: In about one third of healthy subjects, the microscopic analysis of chromosomes reveals heteromorphisms with no clinical implications: for example changes in size of the short arm of acrocentric chromosomes. In patients with a pathological phenotype, however, a large acrocentric short ar...

Descripción completa

Detalles Bibliográficos
Autores principales:	Magri, Chiara, Marchina, Eleonora, Bertini, Valeria, Traversa, Michele, Savio, Giulia, Pilotta, Alba, Piovani, Giovanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557606/ https://www.ncbi.nlm.nih.gov/pubmed/26149167 http://dx.doi.org/10.1186/s12881-015-0193-y

Ejemplares similares

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay
por: Piovani, Giovanna, et al.
Publicado: (2014)

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
por: Sogaard, Marie, et al.
Publicado: (2005)

Sorafenib induces variations of the DNA methylome in HA22T/VGH human hepatocellular carcinoma-derived cells
por: Abeni, Edoardo, et al.
Publicado: (2017)

Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy
por: Ribacoba, Renee, et al.
Publicado: (2008)

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
por: Morokawa, Hirokazu, et al.
Publicado: (2018)

A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
por: Upadia, Jariya, et al.
Publicado: (2018)

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia
por: Brunet, Anna, et al.
Publicado: (2008)

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury
por: Osei-Owusu, Ikeoluwa A., et al.
Publicado: (2020)

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter
por: Sheth, Frenny, et al.
Publicado: (2013)

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements
por: Kohmoto, Tomohiro, et al.
Publicado: (2017)

Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1➔qter in prenatal diagnosis: a case report
por: Altieri, Vincenzo, et al.
Publicado: (2014)

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
por: Liu, Jing, et al.
Publicado: (2016)

Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report
por: Maccarini, Stefania, et al.
Publicado: (2020)

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
por: Rossi, Monica, et al.
Publicado: (2007)

Prenatally detected six duplications at Xp22.33-p11.22: a case report
por: Zhang, Xue, et al.
Publicado: (2023)

Minutes of the 132nd Meeting of the SPSC, Tuesday and Wednesday, 22-23 January 2019
por: CERN. Geneva. SPS and PS Experiments Committee, et al.
Publicado: (2019)

Agenda of the 132nd Meeting of the SPSC, Tuesday and Wednesday, 22-23 January 2019
por: CERN. Geneva. SPS and PS Experiments Committee, et al.
Publicado: (2018)

Duplication of subtelomeric regions in an adult with acute monocytic leukemia with an acquired jumping translocation involving 3q13.31-qter
por: Kjeldsen, Eigil
Publicado: (2017)

Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report
por: Imataka, George, et al.
Publicado: (2017)

18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature
por: Wang, Chunjing, et al.
Publicado: (2018)

Genome rearrangements with duplications
por: Bader, Martin
Publicado: (2010)

Oxidative Rearrangement of Stilbenes to 2,2-Diaryl-2-hydroxyacetaldehydes
por: Kalshetti, Rupali G., et al.
Publicado: (2020)

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2
por: Chanchani, Swati R., et al.
Publicado: (2020)

Evidence that duplications of 22q11.2 protect against schizophrenia
por: Rees, E, et al.
Publicado: (2014)

22q11.2 Deletion and Duplication Syndromes and COVID-19
por: Crowley, T. Blaine, et al.
Publicado: (2022)

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
por: Li, Suping, et al.
Publicado: (2020)

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features
por: Al-Sarraj, Yasser, et al.
Publicado: (2014)

An SNP selection strategy identified IL-22 associating with susceptibility to tuberculosis in Chinese
por: Zhang, Guoliang, et al.
Publicado: (2011)

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum
por: Lall, Meena, et al.
Publicado: (2011)

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
por: Marinescu, Ponnila S, et al.
Publicado: (2015)

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
por: Joynt, Alyssa C. M., et al.
Publicado: (2021)

A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects
por: Zhang, Juan, et al.
Publicado: (2015)

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance
por: Woodward, Karen J., et al.
Publicado: (2019)

Overweight in family members of probands with ADHD
por: Geuijen, Pauline M., et al.
Publicado: (2019)

Comparing genomes with rearrangements and segmental duplications
por: Shao, Mingfu, et al.
Publicado: (2015)

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
por: Paththinige, C. S., et al.
Publicado: (2018)

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
por: Su, Meng, et al.
Publicado: (2018)

The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer
por: Ballout, Rami A., et al.
Publicado: (2021)

Characterization of the past and current duplication activities in the human 22q11.2 region
por: Guo, Xingyi, et al.
Publicado: (2011)

The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden
por: Edwinsdotter Ardnor, Christina, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_a9u3dl66cmce4mcuqthigs1qpn