Cargando…

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

BACKGROUND: Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Reported 6q deletion patients show a high incidence of mental retardation, ear anoma...

Descripción completa

Detalles Bibliográficos
Autores principales:	Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2009
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2731778/ https://www.ncbi.nlm.nih.gov/pubmed/19664229 http://dx.doi.org/10.1186/1755-8166-2-17

Ejemplares similares

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
por: Rosenfeld, Jill A., et al.
Publicado: (2009)

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33
por: Traylor, Ryan N., et al.
Publicado: (2010)

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
por: Rosenfeld, Jill A., et al.
Publicado: (2009)

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
por: Iourov, Ivan Y., et al.
Publicado: (2013)

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
por: Neill, Nicholas J, et al.
Publicado: (2010)

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
por: Shaffer, Lisa G, et al.
Publicado: (2012)

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
por: Shaffer, Lisa G, et al.
Publicado: (2012)

A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
por: Antonacci, Francesca, et al.
Publicado: (2010)

Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
por: Oszer, Aleksandra, et al.
Publicado: (2021)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
por: Zhou, Yaqing, et al.
Publicado: (2022)

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
por: Mc Cormack, Adrian, et al.
Publicado: (2014)

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features
por: Hanafusa, Hiroaki, et al.
Publicado: (2017)

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
por: Haj, Roland, et al.
Publicado: (2009)

A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation
por: Hu, Ping, et al.
Publicado: (2015)

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism
por: Carter, Jennifer, et al.
Publicado: (2016)

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
por: Ballif, Blake C, et al.
Publicado: (2008)

A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome
por: Jiang, Shujuan, et al.
Publicado: (2014)

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
por: Sheth, Frenny J, et al.
Publicado: (2014)

Homozygous deletion of Tenascin-R in a patient with intellectual disability
por: Dufresne, David, et al.
Publicado: (2012)

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
por: Accogli, Andrea, et al.
Publicado: (2017)

SAT-061 Severe Hypocalcemia in an Infant with Abnormal Microarray and Dysmorphic Features
por: Jo, Inha, et al.
Publicado: (2020)

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
por: Varvagiannis, Konstantinos, et al.
Publicado: (2014)

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
por: O’Rawe, Jason A., et al.
Publicado: (2015)

EPHA2, EPHA4, and EPHA7 Expression in Triple-Negative Breast Cancer
por: Nikas, Ilias, et al.
Publicado: (2022)

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
por: D’Apice, Maria Rosaria, et al.
Publicado: (2015)

A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
por: Yamazawa, Kazuki, et al.
Publicado: (2021)

Encompassing the globe : Portugal and the world in the 16th & 17th centuries /
Publicado: (2007)

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco
por: Naasse, Yassine, et al.
Publicado: (2015)

Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities
por: Pan, Yuan, et al.
Publicado: (2017)

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15
por: Yin, Lianli, et al.
Publicado: (2019)

Vaccination with EphA2-derived T cell-epitopes promotes immunity against both EphA2-expressing and EphA2-negative tumors
por: Hatano, Manabu, et al.
Publicado: (2004)

EPHA2, EPHA4, and EPHA6 Expression in Uveal Melanomas: Searching for the Culprits of Neoplasia
por: Pergaris, Alexandros, et al.
Publicado: (2022)

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
por: Li, Dong, et al.
Publicado: (2022)

Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes
por: Miceli, Martina, et al.
Publicado: (2023)

Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review
por: Liu, Yaobin, et al.
Publicado: (2020)

Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
por: Pratte-Santos, Rodrigo, et al.
Publicado: (2016)

Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1
por: Jorgez, Carolina J., et al.
Publicado: (2014)

Cytogenetic abnormalities and azoospermia factor (AZF) microdeletions in infertile men from Kuwait
por: Alkhalaf, Moussa, et al.
Publicado: (2010)

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
por: Xie, Bobo, et al.
Publicado: (2016)

Body dysmorphic disorder
por: Bjornsson, Andri S., et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_98l89959imk1c24lqupondmfau