Cargando…

Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2

In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat syndrome (CdCS). Chromosomal microarray analysis (CMA) revealed a 41.1 Mb duplica...

Descripción completa

Detalles Bibliográficos
Autores principales:	Corrêa, Thiago, Poswar, Fabiano, Feltes, Bruno César, Riegel, Mariluce
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311770/ https://www.ncbi.nlm.nih.gov/pubmed/32625234 http://dx.doi.org/10.3389/fgene.2020.00561

Ejemplares similares

Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
por: Corrêa, Thiago, et al.
Publicado: (2019)

Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia
por: Wang, Jian, et al.
Publicado: (2021)

Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report
por: Yue, Fagui, et al.
Publicado: (2019)

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
por: Papadopoulou, Zoe, et al.
Publicado: (2017)

The impact of monosomies, trisomies and segmental aneuploidies on chromosomal stability
por: Hintzen, Dorine C., et al.
Publicado: (2022)

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
por: Katja, Kloth, et al.
Publicado: (2020)

Monosomy 18p
por: Turleau, Catherine
Publicado: (2008)

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
por: Brooks, Brian P, et al.
Publicado: (2006)

Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation: A case report
por: Xie, Hui-Hui, et al.
Publicado: (2021)

Oral Characteristics of Trisomy 8 and Monosomy 18: A Case Report
por: Spano, Giovanni, et al.
Publicado: (2011)

Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl
por: Al Achkar, Walid, et al.
Publicado: (2010)

Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report
por: Li, Rui, et al.
Publicado: (2023)

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination
por: Peterman, Leia A., et al.
Publicado: (2020)

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
por: Zhang, Jingbo, et al.
Publicado: (2020)

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis
por: Kohannim, Omid, et al.
Publicado: (2011)

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20
por: Corrêa, Thiago, et al.
Publicado: (2020)

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature
por: Wei, Yuan, et al.
Publicado: (2012)

A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3
por: Al Achkar, Walid, et al.
Publicado: (2010)

Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report
por: Karaman, A, et al.
Publicado: (2020)

West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
por: Erol, Ilknur, et al.
Publicado: (2015)

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes
por: Cervantes, Alicia, et al.
Publicado: (2014)

ATR-16 syndrome: mechanisms linking monosomy to phenotype
por: Babbs, Christian, et al.
Publicado: (2020)

Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
por: Zhang, Shuang, et al.
Publicado: (2023)

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
por: Cetin, Z, et al.
Publicado: (2011)

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
por: Schuy, Jakob, et al.
Publicado: (2022)

Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review
por: Zhang, Han, et al.
Publicado: (2020)

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population
por: Zhuang, Jianlong, et al.
Publicado: (2022)

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease
por: Ramos, Eliana Marisa, et al.
Publicado: (2015)

Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region
por: Brault, Véronique, et al.
Publicado: (2015)

A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X
por: Demko, Zachary, et al.
Publicado: (2022)

Neuropathology of brain and spinal malformations in a case of monosomy 1p36
por: Shiba, Naoko, et al.
Publicado: (2013)

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
por: Kim, Yeo-Hyang, et al.
Publicado: (2013)

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1
por: Midro, Alina T., et al.
Publicado: (2015)

Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up
por: Meloni, Vera Ayres, et al.
Publicado: (2014)

Analysis of an extended chromosome locus 2p14–21 for replication of the 2p16.3 association with glaucoma susceptibility
por: Kim, Kyunglan, et al.
Publicado: (2011)

Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1
por: Mansour, Tamer, et al.
Publicado: (2015)

Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication
por: Palumbo, Orazio, et al.
Publicado: (2015)

The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents
por: Morožin Pohovski, Leona, et al.
Publicado: (2023)

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications
por: Corrêa, Thiago, et al.
Publicado: (2021)

A Rare Association of Monosomy 18p Syndrome and Polyglandular Autoimmune Syndrome Type IIIA
por: Dolek-Cetinkaya, D, et al.
Publicado: ( 201)

Cannot write session to /tmp/vufind_sessions/sess_mgnfd262ijkrnu0s96prft8gvu