Cargando…

Unexplained Pancytopenia in a Patient with 5q35.2-q35.3 Microduplication Encompassing NSD1: A Case Report

The 5q35.2-q35.3 duplication phenotype is characterized by growth delay, microcephaly, mental retardation and delayed bone aging. However, there has been no reports on the occurrence of pancytopenia as a consequence of 5q35.2-q35.3 duplication. A 42-year-old male visited the emergency room due to mu...

Descripción completa

Detalles Bibliográficos
Autores principales:	Park, Sungwoo, Lee, Gyeong-Won, Koh, Eun-Ha, Kim, Hyun-Young
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Tehran : Tehran University of Medical Sciences, Hematology-Oncology and Stem Cell Transplantation Research Center 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375373/ https://www.ncbi.nlm.nih.gov/pubmed/30774825

Ejemplares similares

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
por: Jamsheer, Aleksander, et al.
Publicado: (2013)

Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2)
por: Bodega, Beatrice, et al.
Publicado: (2007)

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2
por: Schlaweck, Annika E., et al.
Publicado: (2019)

Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation
por: Cardos, Georgeta, et al.
Publicado: (2022)

Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat
por: Meza-Espinoza, Juan Pablo, et al.
Publicado: (2020)

Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
por: Xiao, Gefei, et al.
Publicado: (2021)

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1
por: Park, Hae-Yeon, et al.
Publicado: (2017)

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
por: Mohamed, A. M., et al.
Publicado: (2018)

DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2
por: Xu, Xueqing, et al.
Publicado: (2009)

Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series
por: Yue, Fagui, et al.
Publicado: (2019)

A novel insertion ins(18;5)(q21.1;q31.2q35.1) in acute myeloid leukemia associated with microdeletions at 5q31.2, 5q35.1q35.2 and 18q12.3q21.1 detected by oligobased array comparative genomic hybridization
por: Kjeldsen, Eigil
Publicado: (2014)

Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report
por: Lee, Heewon, et al.
Publicado: (2018)

Suggestion for linkage of chromosome 1p35.2 and 3q28 to plasma adiponectin concentrations in the GOLDN Study
por: Rasmussen-Torvik, Laura J, et al.
Publicado: (2009)

Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report
por: Bogs, Thomas, et al.
Publicado: (2016)

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
por: Pickard, Ben S, et al.
Publicado: (2004)

Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign
por: Yue, Fagui, et al.
Publicado: (2022)

A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1
por: Urabe, Yuji, et al.
Publicado: (2012)

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
por: Paduano, Francesco, et al.
Publicado: (2020)

Association Study of Reported Significant Loci at 5q35.3, 7p14.3, 13q14.1 and 16p12.3 with Urolithiasis in Chinese Han Ethnicity
por: Wang, Lujia, et al.
Publicado: (2017)

Phenotype Heterogeneity in 3q29 Microduplication Syndrome
por: STREATA, IOANA, et al.
Publicado: (2020)

Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease
por: Liu, Zhenghua, et al.
Publicado: (2017)

Sarcoidosis as an unusual cause of unexplained pancytopenia
por: Raymond, Caitlin, et al.
Publicado: (2023)

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome
por: Reis, Filipa, et al.
Publicado: (2020)

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication
por: Libotte, Francesco, et al.
Publicado: (2021)

35.3 CHILDHOOD EXPOSURE TO GREEN SPACE – A NOVEL RISK-DECREASING MECHANISM FOR SCHIZOPHRENIA?
por: Engemann, Kristine, et al.
Publicado: (2018)

Linkage to chromosome 2q32.2-q35 in families with serrated neoplasia
por: Roberts, Aedan, et al.
Publicado: (2010)

Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review
por: Zhuang, Jianlong, et al.
Publicado: (2023)

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
por: Huang, Xiuzhu, et al.
Publicado: (2021)

Unexplained pancytopenia in acute myeloid leukemia treatment
por: Ezekwudo, Daniel, et al.
Publicado: (2018)

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
por: Dentici, Maria Lisa, et al.
Publicado: (2020)

Recurrent 17q12 microduplications contribute to renal disease but not diabetes
por: Cannon, Stuart, et al.
Publicado: (2023)

Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
por: Lee, Jin Hwan, et al.
Publicado: (2016)

Duplication of intrachromosomal insertion segments 4q32→q35 confirmed by comparative genomic hybridization and fluorescent in situ hybridization
por: Kim, Jin Woo, et al.
Publicado: (2011)

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)

Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes
por: Mc Cormack, Adrian, et al.
Publicado: (2013)

Distal 22q11.2 Microduplication: Case Report and Review of the Literature
por: Pinchefsky, Elana, et al.
Publicado: (2017)

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome
por: Cai, Meiying, et al.
Publicado: (2022)

3q29 microduplication syndrome: New evidence for the refinement of the critical region
por: Bauleo, Alessia, et al.
Publicado: (2023)

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
por: Wang, Yunan, et al.
Publicado: (2023)

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
por: Hu, Jie, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_ke2c8aoavrkncdnglo8sjjpmh4