Cargando…

Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review

Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability and psychomotor growth. Female patients carrying monosomy Xq usually show mild symptoms due to skewed X-chromosome inactivation (XCI). Unbalanced translo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Qiong, Kong, Hui, Shen, Yanyan, Chen, Jing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235249/ https://www.ncbi.nlm.nih.gov/pubmed/35761368 http://dx.doi.org/10.1186/s13039-022-00603-3

Ejemplares similares

Unbalanced X chromosome mosaicism in B cells of mice with X-linked immunodeficiency
Publicado: (1983)

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

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)

Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
por: Watanabe, Takafumi, et al.
Publicado: (2018)

Cytogenetic and molecular characterization of an oligoasthenozoospermia male carrier of an unbalanced Y;22 translocation: A case report
por: Jia, Chunshu, et al.
Publicado: (2019)

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9
por: Antwi, Prince, et al.
Publicado: (2018)

Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation
por: Dutta, Usha R., et al.
Publicado: (2012)

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

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

Cytogenetic and molecular detection of a rare unbalanced Y;3 translocation in an infertile male: A case report
por: Deng, Shu, et al.
Publicado: (2020)

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

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

Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics
por: Dai, Peng, et al.
Publicado: (2022)

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure
por: Omrani, Mir Davood, et al.
Publicado: (2013)

Cytogenetics of the Mammalian X Chromosome. Part A: Basic Mechanisms of X Chromosome Behavior. Part B: Chromosome Anomalies and Their Clinical Manifestations
por: Murphy, Patricia D.
Publicado: (1984)

Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
por: Grzesiuk, Juliana Dourado, et al.
Publicado: (2016)

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
por: Markova, Zhanna G., et al.
Publicado: (2021)

Fragile X/Cancer Cytogenetics
por: Seashore, Margretta R.
Publicado: (1992)

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s
por: Rossi, Elena, et al.
Publicado: (2012)

Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
por: Grzesiuk, Juliana Dourado, et al.
Publicado: (2016)

Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case
por: Zhao, Xin-Rong, et al.
Publicado: (2017)

Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin
por: Jadhav, Ajinkya, et al.
Publicado: (2023)

Cytogenetic analysis of Aegilops chromosomes, potentially usable in triticale (X Triticosecale Witt.) breeding
por: Kwiatek, M., et al.
Publicado: (2013)

Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male
por: Wiland, Ewa, et al.
Publicado: (2014)

Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
por: Latrech, Hanane, et al.
Publicado: (2018)

Comparative cytogenetic analysis of marine Palaemon species reveals a X(1)X(1)X(2)X(2)/X(1)X(2)Y sex chromosome system in Palaemon elegans
por: Torrecilla, Zeltia, et al.
Publicado: (2017)

Molecular Cytogenetic Characterization of Novel 1RS.1BL Translocation and Complex Chromosome Translocation Lines with Stripe Rust Resistance
por: Li, Zhi, et al.
Publicado: (2022)

De novo unbalanced translocation t(15;22)(q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature
por: Gug, Cristina, et al.
Publicado: (2018)

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

De novo chromosomal aberrations in the fetus; genetic counseling and clinical outcome.
por: Park, So- Yeon, et al.
Publicado: (2003)

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)

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

Sex chromosomal dimorphisms narrated by X-chromosome translocation in a spiny frog (Quasipaa boulengeri)
por: Yuan, Xiuyun, et al.
Publicado: (2018)

Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review
por: Ishibashi, Makiho, et al.
Publicado: (2021)

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)

Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report
por: Sait, Haseena, et al.
Publicado: (2021)

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
por: Liu, Jing, et al.
Publicado: (2016)

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
por: Magini, Pamela, et al.
Publicado: (2015)

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

Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?
por: Lissoni, Sara, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_1ll3sboe9v3ah43is20r70388o