Cargando…

Neocentric X-chromosome in a girl with Turner-like syndrome

BACKGROUND: Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocentromere in a 15-year-old girl with clinical features suggestive of Turner syndro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hemmat, Morteza, Wang, Boris T, Warburton, Peter E, Yang, Xiaojing, Boyar, Fatih Z, El Naggar, Mohammed, Anguiano, Arturo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477003/ https://www.ncbi.nlm.nih.gov/pubmed/22682421 http://dx.doi.org/10.1186/1755-8166-5-29

Ejemplares similares

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
por: Hemmat, Morteza, et al.
Publicado: (2013)

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay
por: Hemmat, Morteza, et al.
Publicado: (2014)

Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results
por: Hemmat, Morteza, et al.
Publicado: (2014)

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays
por: Wang, Jia-Chi, et al.
Publicado: (2014)

Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
por: Wang, Boris T, et al.
Publicado: (2014)

Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature
por: Hemmat, Morteza, et al.
Publicado: (2013)

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1
por: Hemmat, Morteza, et al.
Publicado: (2017)

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster
por: Hemmat, Morteza, et al.
Publicado: (2014)

The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes
por: Weber, André, et al.
Publicado: (2022)

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
por: Anguiano, Arturo, et al.
Publicado: (2012)

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome
por: Ma, Ruiyu, et al.
Publicado: (2015)

Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge
por: Wang, Jia-Chi, et al.
Publicado: (2016)

Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis
por: Wang, Jia-Chi, et al.
Publicado: (2016)

Copy Number Variations Are More Frequent on Chromosome 14 as Compared to X Chromosome in Suspected Turner Syndrome Girls - A Chromosomal Microarray Analysis
por: Purwar, Naincy, et al.
Publicado: (2021)

Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype
por: Yüce, Özge, et al.
Publicado: (2015)

Growth in girls with Turner syndrome
por: Isojima, Tsuyoshi, et al.
Publicado: (2023)

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl
por: Dharmadhikari, Avinash V., et al.
Publicado: (2022)

Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes
por: Quintero, Andrea I, et al.
Publicado: (2014)

Immunological parameters in girls with Turner syndrome
por: Stenberg, Annika E, et al.
Publicado: (2004)

Growth Curves for Girls with Turner Syndrome
por: Bertapelli, Fabio, et al.
Publicado: (2014)

Autoimmunity Predisposition in Girls With Turner Syndrome
por: Wegiel, Malgorzata, et al.
Publicado: (2019)

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group
por: Darendeliler, Feyza, et al.
Publicado: (2015)

Origin of the X-chromosome influences the development and treatment outcomes of Turner syndrome
por: Zhang, Ying, et al.
Publicado: (2021)

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?
por: Soares, Jéssica Silva, et al.
Publicado: (2021)

Body composition in Egyptian Turner syndrome girls
por: Zaki, Moushira Erfan, et al.
Publicado: (2013)

No QTc Prolongation in Girls and Women with Turner Syndrome
por: Noordman, Iris D, et al.
Publicado: (2020)

Hemodynamic Abnormalities in the Aorta of Turner Syndrome Girls
por: Johnston, Lauren, et al.
Publicado: (2021)

Empathic Accuracy in Adolescent Girls with Turner Syndrome
por: Klabunde, M., et al.
Publicado: (2021)

Dermatological concerns for women and girls with turner syndrome
por: Rodriguez-Buritica, David, et al.
Publicado: (2023)

Adolescent brain development in girls with Turner syndrome
por: Lozano Wun, Vanessa, et al.
Publicado: (2023)

Skeletal muscle microvascular function in girls with Turner syndrome
por: West, Sarah L., et al.
Publicado: (2014)

Immunological Profile and Predisposition to Autoimmunity in Girls With Turner Syndrome
por: Gawlik, Aneta Monika, et al.
Publicado: (2018)

Longitudinal Health Care for Girls and Women With Turner Syndrome
por: Ghosh, Priyanka, et al.
Publicado: (2021)

Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata
por: Sireteanu, A, et al.
Publicado: (2013)

Y Chromosome Material in Turner Syndrome
por: Akcan, Abdullah Baris, et al.
Publicado: (2021)

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
por: Mazzaschi, Roberto L. P., et al.
Publicado: (2014)

Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome
por: Kasprzyk, Jakub, et al.
Publicado: (2021)

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
por: Luo, Hunjin, et al.
Publicado: (2022)

Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins
por: Qi, Xiao, et al.
Publicado: (2023)

Proposal of New Auxological Standards for Japanese Girls with Turner Syndrome
por: Isojima, Tsuyoshi, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_pjo71vdkgkieulh7307tgifa2c