Cargando…

Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of “8p Inverted Duplication/Deletion Syndrome”

Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8—inv dup del(8p)—is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants of chromosomal imbalance depend on the mechanism of re...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yurchenko, Darya A., Minzhenkova, Marina E., Dadali, Elena L., Markova, Zhanna G., Rudenskaya, Galina E., Matyushchenko, Galina N., Kanivets, Ilya V., Shilova, Nadezda V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945196/ https://www.ncbi.nlm.nih.gov/pubmed/35327368 http://dx.doi.org/10.3390/biomedicines10030567

Ejemplares similares

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
por: Markova, Zhanna G., et al.
Publicado: (2021)

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
por: Levchenko, Olga, et al.
Publicado: (2022)

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
por: Vasilyeva, Tatyana A., et al.
Publicado: (2020)

Trisomies Reorganize Human 3D Genome
por: Zhegalova, Irina V., et al.
Publicado: (2023)

Genetic and Clinical Spectrum of GNE Myopathy in Russia
por: Murtazina, Aysylu, et al.
Publicado: (2022)

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
por: Rudenskaya, G. E., et al.
Publicado: (2020)

A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
por: Krgovic, Danijela, et al.
Publicado: (2014)

Collagenolytic serine protease PC and trypsin PC from king crab Paralithodes camtschaticus: cDNA cloning and primary structure of the enzymes
por: Rudenskaya, Galina N, et al.
Publicado: (2004)

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
por: Zabnenkova, Viktoriia, et al.
Publicado: (2022)

Processing Facial Expressions of Emotion: Upright vs. Inverted Images
por: Bimler, David L., et al.
Publicado: (2013)

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features
por: Riley, Jacquelyn D., et al.
Publicado: (2019)

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants
por: Tsygankova, Polina, et al.
Publicado: (2022)

Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman
por: Zhu, Jianjiang, et al.
Publicado: (2019)

Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features”
por: Riley, Jacquelyn D., et al.
Publicado: (2019)

Severe COVID-19 Infection in an Infant With 8p Inverted Duplication/Deletion Syndrome: Is Vaccination Still a Debate?
por: Joseph, Andrew M, et al.
Publicado: (2023)

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL
por: Bostanova, Fatima, et al.
Publicado: (2023)

The 29-nucleotide deletion in SARS-CoV: truncated versions of ORF8 are under purifying selection
por: Bykova, Anastassia, et al.
Publicado: (2023)

SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold
por: Kievskaya, J.K., et al.
Publicado: (2021)

Cytogenetic description of the earthworm Drawida ghilarovi Gates, 1969 (Oligochaeta, Moniligastridae) from the southern Russian Far East
por: Anisimov, Alim P., et al.
Publicado: (2015)

Expressed Structurally Stable Inverted Duplicates in Mammalian Genomes as Functional Noncoding Elements
por: Chen, Zhen-Xia, et al.
Publicado: (2017)

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene
por: Markova, Tatiana Vladimirovna, et al.
Publicado: (2022)

Common Structural Patterns in the Maxicircle Divergent Region of Trypanosomatidae
por: Gerasimov, Evgeny S., et al.
Publicado: (2020)

Discovery of four Noggin genes in lampreys suggests two rounds of ancient genome duplication
por: Ermakova, Galina V., et al.
Publicado: (2020)

Uncovering missing pieces: duplication and deletion history of arrestins in deuterostomes
por: Indrischek, Henrike, et al.
Publicado: (2017)

Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism
por: Hermetz, Karen E., et al.
Publicado: (2014)

Influence of human peripheral blood samples preprocessing on the quality of Hi-C libraries
por: Gridina, M.M., et al.
Publicado: (2023)

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia
por: Kovalskaia, Valeriia A., et al.
Publicado: (2022)

Long-read technologies identify a hidden inverted duplication in a family with choroideremia
por: Fadaie, Zeinab, et al.
Publicado: (2021)

Publisher Correction: Discovery of four Noggin genes in lampreys suggests two rounds of ancient genome duplication
por: Ermakova, Galina V., et al.
Publicado: (2020)

Formation of Linear Amplicons with Inverted Duplications in Leishmania Requires the MRE11 Nuclease
por: Laffitte, Marie-Claude N., et al.
Publicado: (2014)

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
por: Blomqvist, Maria, et al.
Publicado: (2019)

Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
por: van der Laan, Liselot, et al.
Publicado: (2023)

Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review
por: Yue, Fagui, et al.
Publicado: (2018)

Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
por: Chai, Hongyan, et al.
Publicado: (2019)

The clinical utility of gene expression examination in rheumatology
por: Tchetina, Elena, et al.
Publicado: (2017)

Natural and Designed Toxins for Precise Therapy: Modern Approaches in Experimental Oncology
por: Shilova, Olga, et al.
Publicado: (2021)

An effect of large-scale deletions and duplications on transcript expression
por: Mielczarek, Magda, et al.
Publicado: (2022)

Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female
por: Hulick, P. J., et al.
Publicado: (2010)

Clinical implications of cytogenetic heterogeneity in multiple myeloma patients with TP53 deletion
por: Hao, Suyang, et al.
Publicado: (2017)

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
por: Markova, Tatyana, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_77coniiakj6f2p947d7m1ntc06