Cargando…

Evidence for Correlation of Fragile Sites and Chromosomal Breakpoints in Carriers of Constitutional Balanced Chromosomal Rearrangements

A molecular cytogenetic study of 251 cases with balanced chromosomal rearrangements detected due to infertility of unclear origin or in prenatal diagnostics with a later normal outcome was done. Balanced translocations (127 cases), inversions (105 cases), insertions (three cases), balanced complex r...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liehr, T, Kosayakova, N, Schröder, J, Ziegler, M, Kreskowski, K, Pohle, B, Bhatt, S, Theuss, L, Wilhelm, K, Weise, A, Mrasek, K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Macedonian Science of Sciences and Arts 2011
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776699/ https://www.ncbi.nlm.nih.gov/pubmed/24052707 http://dx.doi.org/10.2478/v10034-011-0042-z

Ejemplares similares

X-autosome and X-Y Translocations in Female Carriers: X-chromosome Inactivation Easily Detectable by 5-ethynyl-2-deoxyuridine (EdU)
por: Donat, M, et al.
Publicado: (2017)

The hierarchically organized splitting of chromosomal bands for all human chromosomes
por: Kosyakova, Nadezda, et al.
Publicado: (2009)

Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding
por: Karadeniz, Nilüfer, et al.
Publicado: (2008)

Precise detection of rearrangement breakpoints in mammalian chromosomes
por: Lemaitre, Claire, et al.
Publicado: (2008)

Recombinant Chromosomes Resulting From Parental Pericentric Inversions—Two New Cases and a Review of the Literature
por: Liehr, Thomas, et al.
Publicado: (2019)

Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region
por: Redaelli, Serena, et al.
Publicado: (2022)

Detection of gene expression changes at chromosomal rearrangement breakpoints in evolution
por: Muñoz, Adriana, et al.
Publicado: (2012)

Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon
por: Manvelyan, Marina, et al.
Publicado: (2008)

Chromosome distribution in human sperm – a 3D multicolor banding-study
por: Manvelyan, Marina, et al.
Publicado: (2008)

Recurrence of Chromosome Rearrangements and Reuse of DNA Breakpoints in the Evolution of the Triticeae Genomes
por: Li, Wanlong, et al.
Publicado: (2016)

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier
por: Eisfeldt, Jesper, et al.
Publicado: (2020)

Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
por: Liehr, Thomas, et al.
Publicado: (2010)

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes
por: Obenauf, Anna C, et al.
Publicado: (2010)

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
por: Sugimoto, Takeshi, et al.
Publicado: (2023)

Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
por: Liehr, Thomas, et al.
Publicado: (2008)

Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia
por: Li, Yilong, et al.
Publicado: (2014)

Chromosomal instability in Afrotheria: fragile sites, evolutionary breakpoints and phylogenetic inference from genome sequence assemblies
por: Ruiz-Herrera, Aurora, et al.
Publicado: (2007)

Identification and Characterization of Breakpoints and Mutations on Drosophila melanogaster Balancer Chromosomes
por: Miller, Danny E., et al.
Publicado: (2020)

Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2
por: Moralli, Daniela, et al.
Publicado: (2015)

Evolution of the Human Chromosome 13 Synteny: Evolutionary Rearrangements, Plasticity, Human Disease Genes and Cancer Breakpoints
por: Scardino, Rita, et al.
Publicado: (2020)

Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis
por: Gudipati, Mary A., et al.
Publicado: (2019)

Chromosome Fragile Sites in Arabidopsis Harbor Matrix Attachment Regions That May Be Associated with Ancestral Chromosome Rearrangement Events
por: dela Paz, Joelle S., et al.
Publicado: (2012)

First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease
por: Filipović, Jelena, et al.
Publicado: (2016)

Evolutionary breakpoint regions and chromosomal remodeling in Harttia (Siluriformes: Loricariidae) species diversification
por: Deon, Geize Aparecida, et al.
Publicado: (2022)

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
por: Aktas, Dilek, et al.
Publicado: (2010)

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues
por: Mkrtchyan, Hasmik, et al.
Publicado: (2010)

Characterization of chromosome constitution in three wheat - Thinopyrum intermedium amphiploids revealed frequent rearrangement of alien and wheat chromosomes
por: Cui, Yu, et al.
Publicado: (2021)

Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites
por: Burrow, Allison A, et al.
Publicado: (2009)

The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes
por: Li, Peining, et al.
Publicado: (2022)

Heteromorphic variants of chromosome 9
por: Kosyakova, Nadezda, et al.
Publicado: (2013)

Translocation Breakpoints Preferentially Occur in Euchromatin and Acrocentric Chromosomes
por: Lin, Cheng-Yu, et al.
Publicado: (2018)

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement
por: Aristidou, Constantia, et al.
Publicado: (2018)

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders
por: Utami, Kagistia H., et al.
Publicado: (2014)

Parental origin of deletions and duplications – about the necessity to check for cryptic inversions
por: Liehr, Thomas, et al.
Publicado: (2018)

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
por: Fonseca, Ana Carolina S, et al.
Publicado: (2013)

Chromosomal Rearrangements and Satellite DNAs: Extensive Chromosome Reshuffling and the Evolution of Neo-Sex Chromosomes in the Genus Pyrrhulina (Teleostei; Characiformes)
por: de Moraes, Renata Luiza Rosa, et al.
Publicado: (2023)

Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform
por: Hu, Liang, et al.
Publicado: (2020)

Delineating Chromosomal Breakpoints in Radiation-Induced Papillary Thyroid Cancer
por: Weier, Heinz-Ulrich G., et al.
Publicado: (2011)

Breakpoint structure of the Anopheles gambiae 2Rb chromosomal inversion
por: Lobo, Neil F, et al.
Publicado: (2010)

Investigating the role of X chromosome breakpoints in premature ovarian failure
por: Baronchelli, Simona, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_5ajfrh8dclh2h3a5qgqle3mjkm