Cargando…

Clinical, cytogenetic and molecular study of a case of ring chromosome 10

Ring chromosome 10 is a rare cytogenetic finding. Only a few cases with molecular cytogenetic definition have been reported. We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart de...

Descripción completa

Detalles Bibliográficos
Autores principales:	Čiuladaitė, Živilė, Burnytė, Birutė, Vansevičiūtė, Danutė, Dagytė, Evelina, Kučinskas, Vaidutis, Utkus, Algirdas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411697/ https://www.ncbi.nlm.nih.gov/pubmed/25922618 http://dx.doi.org/10.1186/s13039-015-0124-9

Ejemplares similares

The First Live Birth in Lithuania After Application of Preimplantation Genetic Testing
por: Gudlevičienė, Živilė, et al.
Publicado: (2020)

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report
por: Siavrienė, Evelina, et al.
Publicado: (2021)

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report
por: Aleksiūnienė, Beata, et al.
Publicado: (2017)

Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
por: Grigalionienė, Kristina, et al.
Publicado: (2022)

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report
por: Siavrienė, Evelina, et al.
Publicado: (2019)

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies
por: Preikšaitienė, Eglė, et al.
Publicado: (2016)

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome
por: Siavrienė, Evelina, et al.
Publicado: (2023)

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation
por: Siavrienė, Evelina, et al.
Publicado: (2022)

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
por: Grigalionienė, Kristina, et al.
Publicado: (2023)

Implementation and Evaluation of Preimplantation Genetic Testing at Vilnius University Hospital Santaros Klinikos
por: Stukaitė-Ruibienė, Eglė, et al.
Publicado: (2022)

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report
por: Petraitytė, Gunda, et al.
Publicado: (2022)

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population
por: Mikstiene, Violeta, et al.
Publicado: (2016)

Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?
por: Ekkert, Aleksandra, et al.
Publicado: (2021)

Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease
por: Burnyte, Birute, et al.
Publicado: (2023)

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family
por: Siavrienė, Evelina, et al.
Publicado: (2019)

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
por: Inashkina, Inna, et al.
Publicado: (2016)

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra
por: Peciuliene, Skaiste, et al.
Publicado: (2016)

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability
por: Maldžienė, Živilė, et al.
Publicado: (2020)

The most common technologies and tools for functional genome analysis
por: Gasperskaja, Evelina, et al.
Publicado: (2017)

Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study
por: Grigaitė, Julija, et al.
Publicado: (2021)

Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7
por: Tsai, Li-Ping, et al.
Publicado: (2011)

Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review
por: Paz-y-Miño, César, et al.
Publicado: (2019)

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report
por: Guilherme, Roberta S, et al.
Publicado: (2012)

Ring chromosome 15 – cytogenetics and mapping arrays: a case report and review of the literature
por: Paz-y-Miño, César, et al.
Publicado: (2018)

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
por: Yang, Yang, et al.
Publicado: (2019)

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
por: Basaran, Seher, et al.
Publicado: (2022)

Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case
por: Zhao, Xin-Rong, et al.
Publicado: (2017)

Molecular Cytogenetics in the Era of Chromosomics and Cytogenomic Approaches
por: Liehr, Thomas
Publicado: (2021)

Challenges in the Diagnosis of XY Differences of Sexual Development
por: Bumbulienė, Žana, et al.
Publicado: (2022)

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
por: Malcorps, Matilde, et al.
Publicado: (2022)

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome
por: Pranckėnienė, Laura, et al.
Publicado: (2019)

Genome-Wide Landscape of North-Eastern European Populations: A View from Lithuania
por: Urnikyte, Alina, et al.
Publicado: (2021)

Microevolutionary processes analysis in the Lithuanian genome
por: Pranckėnienė, Laura, et al.
Publicado: (2023)

Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome
por: Pace, Nikolai Paul, et al.
Publicado: (2017)

Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18
por: Zhang, Yanliang, et al.
Publicado: (2010)

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases
por: Ruzgienė, Dovilė, et al.
Publicado: (2021)

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
por: Trainavičius, Ignas, et al.
Publicado: (2022)

De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
por: Pranckėnienė, Laura, et al.
Publicado: (2019)

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
por: Sachwitz, Jana, et al.
Publicado: (2016)

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics
por: Le Scouarnec, S, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_k2ipcd7rfeh0scn9803ebc7qes