Cargando…

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9

Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in SOX9 or chromosomal rearrangements involving the long...

Descripción completa

Detalles Bibliográficos
Autores principales:	Antwi, Prince, Hong, Christopher S., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, DiLuna, Michael, Kahle, Kristopher T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2018
Materias:	Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983176/ https://www.ncbi.nlm.nih.gov/pubmed/29695406 http://dx.doi.org/10.1101/mcs.a002766

Ejemplares similares

The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers
por: Yao, Baojin, et al.
Publicado: (2015)

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
por: Fonseca, Ana Carolina S, et al.
Publicado: (2013)

Campomelic dysplasia
por: Goyal, Jagdish P., et al.
Publicado: (2011)

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9
por: Katoh‐Fukui, Yuko, et al.
Publicado: (2015)

A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia
por: von Bohlen, Anna E., et al.
Publicado: (2017)

9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus
por: Furey, Charuta, et al.
Publicado: (2018)

A Case of Campomelic Dysplasia without Sex Reversal
por: Kim, Hyoung-Young, et al.
Publicado: (2011)

Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion
por: Liu, Xijing, et al.
Publicado: (2022)

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
por: Mattos, Eduardo P., et al.
Publicado: (2015)

De novo MYH9 mutation in congenital scalp hemangioma
por: Fomchenko, Elena I., et al.
Publicado: (2018)

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
por: Debuf, Marie‐Julie, et al.
Publicado: (2019)

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6
por: Ganguly, Bani Bandana, et al.
Publicado: (2011)

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
por: Pasupathy, M., et al.
Publicado: (2016)

Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report
por: Basani, Laxman, et al.
Publicado: (2018)

Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
por: Qiao, Xingxing, et al.
Publicado: (2023)

Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12
por: Tezcan, Berrin, et al.
Publicado: (2015)

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus
por: Jin, Sheng Chih, et al.
Publicado: (2019)

Navigating the ventricles: Novel insights into the pathogenesis of hydrocephalus
por: Bramall, Alexa N., et al.
Publicado: (2022)

45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity
por: Suntharesan, Jananie, et al.
Publicado: (2022)

Breakpoint Features of Genomic Rearrangements in Neuroblastoma with Unbalanced Translocations and Chromothripsis
por: Boeva, Valentina, et al.
Publicado: (2013)

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
por: Sheth, Frenny, et al.
Publicado: (2015)

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
por: Calvache, Carlos A., et al.
Publicado: (2022)

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay
por: Verdi, Giavanna, et al.
Publicado: (2022)

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis
por: Weckselblatt, Brooke, et al.
Publicado: (2015)

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding
por: Fischer, Julie, et al.
Publicado: (2022)

A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
por: de Sousa, Paula, et al.
Publicado: (2018)

Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
por: Wu, Qiong, et al.
Publicado: (2022)

Anaplastic large-cell lymphoma with atypical chromosomal translocation t(2;5) and hypophyseal tumor
por: Wang, Lei, et al.
Publicado: (2010)

Identification of Balanced and Unbalanced Complex Chromosomal Rearrangement Involving Chromosomes 1, 11, and 15
por: Vafaeie, Farzane, et al.
Publicado: (2021)

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3
por: Allocco, August A., et al.
Publicado: (2019)

Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6)
por: Jurčenko, Marija, et al.
Publicado: (2022)

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis
por: Greenberg, Ana B. W., et al.
Publicado: (2023)

Unbalanced YAP–SOX9 circuit drives stemness and malignant progression in esophageal squamous cell carcinoma
por: Wang, Lianghai, et al.
Publicado: (2018)

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report
por: Wu, David J, et al.
Publicado: (2009)

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations
por: Robberecht, Caroline, et al.
Publicado: (2013)

Long-term follow-up of females with unbalanced X;Y translocations—reproductive and nonreproductive consequences
por: Dobek, Whitney A, et al.
Publicado: (2015)

Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission
por: Jiang, Yuting, et al.
Publicado: (2020)

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders
por: Hu, Xiaolin, et al.
Publicado: (2022)

Unbalanced but Satisfied?
por: Shenoi, Asha N.
Publicado: (2016)

18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review
por: Choi, Ji Young, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_09681fh9pkvt1glq2viu8qacp9