Cargando…

A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study

BACKGROUND: There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra maternally derived copy of the Prader–Willi/Angelman critical region. Trisomy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lemskaya, Natalya A., Romanenko, Svetlana A., Rezakova, Mariia A., Filimonova, Elena A., Prokopov, Dmitry Yu., Dolskiy, Alexander A., Perelman, Polina L., Maksimova, Yulia V., Shorina, Asia R., Yudkin, Dmitry V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8489072/ https://www.ncbi.nlm.nih.gov/pubmed/34607577 http://dx.doi.org/10.1186/s13039-021-00565-y

Ejemplares similares

X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report
por: Telepova, Alena S., et al.
Publicado: (2017)

Inhibitors of Histone Deacetylases Are Weak Activators of the FMR1 Gene in Fragile X Syndrome Cell Lines
por: Dolskiy, Alexander A., et al.
Publicado: (2017)

Maps of Constitutive-Heterochromatin Distribution for Four Martes Species (Mustelidae, Carnivora, Mammalia) Show the Formative Role of Macrosatellite Repeats in Interspecific Variation of Chromosome Structure
por: Beklemisheva, Violetta R., et al.
Publicado: (2023)

miRNA expression and interaction with the 3′UTR of FMR1 in FRAXopathy pathogenesis
por: Dolskiy, Alexander A., et al.
Publicado: (2020)

Intrachromosomal Rearrangements in Rodents from the Perspective of Comparative Region-Specific Painting
por: Romanenko, Svetlana A., et al.
Publicado: (2017)

Cell Cultures for Virology: Usability, Advantages, and Prospects
por: Dolskiy, Alexander A., et al.
Publicado: (2020)

Multiple intrasyntenic rearrangements and rapid speciation in voles
por: Romanenko, Svetlana A., et al.
Publicado: (2018)

Salivary oxytocin in autistic patients and in patients with intellectual disability
por: Pichugina, Yulia A., et al.
Publicado: (2022)

Evolutionary rearrangements of X chromosomes in voles (Arvicolinae, Rodentia)
por: Romanenko, Svetlana A., et al.
Publicado: (2020)

Complex Structure of Lasiopodomys mandarinus vinogradovi Sex Chromosomes, Sex Determination, and Intraspecific Autosomal Polymorphism
por: Romanenko, Svetlana A., et al.
Publicado: (2020)

Comparative Chromosome Mapping of Musk Ox and the X Chromosome among Some Bovidae Species
por: Proskuryakova, Anastasia A., et al.
Publicado: (2019)

First cytogenetic analysis of lesser gymnures (Mammalia, Galericidae, Hylomys) from Vietnam
por: Pavlova, Svetlana V., et al.
Publicado: (2018)

Rapid Karyotype Evolution in Lasiopodomys Involved at Least Two Autosome – Sex Chromosome Translocations
por: Gladkikh, Olga L., et al.
Publicado: (2016)

Chromosome Distribution of Highly Conserved Tandemly Arranged Repetitive DNAs in the Siberian Sturgeon (Acipenser baerii)
por: Biltueva, Larisa S., et al.
Publicado: (2020)

Naked mole rat cells display more efficient excision repair than mouse cells
por: Evdokimov, Alexei, et al.
Publicado: (2018)

A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms
por: Grishchenko, I.V., et al.
Publicado: (2021)

The Tissue Distribution of SARS-CoV-2 in Transgenic Mice With Inducible Ubiquitous Expression of hACE2
por: Dolskiy, Alexander A., et al.
Publicado: (2022)

"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements
por: Rafati, Maryam, et al.
Publicado: (2012)

Sequencing of Supernumerary Chromosomes of Red Fox and Raccoon Dog Confirms a Non-Random Gene Acquisition by B Chromosomes
por: Makunin, Alexey I., et al.
Publicado: (2018)

Effects of Mutations in the Drosophila melanogaster Rif1 Gene on the Replication and Underreplication of Pericentromeric Heterochromatin in Salivary Gland Polytene Chromosomes
por: Kolesnikova, Tatyana D., et al.
Publicado: (2020)

The Ancestral Carnivore Karyotype As Substantiated by Comparative Chromosome Painting of Three Pinnipeds, the Walrus, the Steller Sea Lion and the Baikal Seal (Pinnipedia, Carnivora)
por: Beklemisheva, Violetta R., et al.
Publicado: (2016)

Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities
por: Charalsawadi, Chariyawan, et al.
Publicado: (2016)

Amplified Fragments of an Autosome-Borne Gene Constitute a Significant Component of the W Sex Chromosome of Eremias velox (Reptilia, Lacertidae)
por: Lisachov, Artem, et al.
Publicado: (2021)

Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome
por: Pani, Ariel M., et al.
Publicado: (2010)

The Cytogenetic Map of the Nile Crocodile (Crocodylus niloticus, Crocodylidae, Reptilia) with Fluorescence In Situ Localization of Major Repetitive DNAs
por: Romanenko, Svetlana A., et al.
Publicado: (2022)

The Genetics of Intellectual Disability
por: Jansen, Sandra, et al.
Publicado: (2023)

Prevalence of selected clinical problems in older adults with autism and intellectual disability
por: Kats, Dmitry, et al.
Publicado: (2013)

Rearrangements of the Actin Cytoskeleton and E-Cadherin–Based Adherens Junctions Caused by Neoplasic Transformation Change Cell–Cell Interactions
por: Ayollo, Dmitry V., et al.
Publicado: (2009)

Karyotype Evolution in 10 Pinniped Species: Variability of Heterochromatin versus High Conservatism of Euchromatin as Revealed by Comparative Molecular Cytogenetics
por: Beklemisheva, Violetta R., et al.
Publicado: (2020)

Formal Caregivers in Intellectual Disability Facilities
por: Martins, B., et al.
Publicado: (2023)

Segmental paleotetraploidy revealed in sterlet (Acipenser ruthenus) genome by chromosome painting
por: Romanenko, Svetlana A., et al.
Publicado: (2015)

Intellectual and Developmental Disability: Healthcare Financing
por: Ervin, David A., et al.
Publicado: (2014)

Rearrangements of organic peroxides and related processes
por: Yaremenko, Ivan A, et al.
Publicado: (2016)

Deletion of BST2 Cytoplasmic and Transmembrane N-Terminal Domains Results in SARS-CoV, SARS-CoV-2, and Influenza Virus Production Suppression in a Vero Cell Line
por: Dolskiy, Alexander A., et al.
Publicado: (2020)

Genetic studies in children with intellectual disability and autistic spectrum of disorders
por: Balasubramanian, Bhanumathi, et al.
Publicado: (2009)

Diet quality among people with intellectual disabilities and borderline intellectual functioning
por: Gast, David A. A., et al.
Publicado: (2021)

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

Using AlphaFold to predict the impact of single mutations on protein stability and function
por: Pak, Marina A., et al.
Publicado: (2023)

New Data on Comparative Cytogenetics of the Mouse-Like Hamsters (Calomyscus Thomas, 1905) from Iran and Turkmenistan
por: Romanenko, Svetlana A., et al.
Publicado: (2021)

Intellectual disabilities and yoga
por: Singh, Satendra
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_nhhh5tdtr81sd2lq78laffvuc8