Cargando…

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ganguly, Bani Bandana, Kadam, Vijay, Kadam, Nitin N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2011
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447228/ https://www.ncbi.nlm.nih.gov/pubmed/23074675 http://dx.doi.org/10.1155/2011/396450

Ejemplares similares

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

Neurological expression of an inherited translocation of chromosomal 1 and 7
por: AlMajhad, Nabil A., et al.
Publicado: (2017)

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)

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

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

Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
por: Jones, Kevin, et al.
Publicado: (2016)

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family
por: Zhang, Ying, et al.
Publicado: (2022)

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)

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

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report
por: Ali, Taccyanna M., et al.
Publicado: (2021)

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

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)

Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p
por: Musabi, Melab, et al.
Publicado: (2022)

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature
por: Mishra, R., et al.
Publicado: (2018)

Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay
por: Hao, Dongmei, et al.
Publicado: (2021)

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

Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family
por: Pazarbasi, A, et al.
Publicado: (2013)

West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation
por: Erol, Ilknur, et al.
Publicado: (2015)

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)

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)

Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation
por: Fan, Judith, et al.
Publicado: (2023)

Persistent viremia in an immunocompetent patient with inherited chromosomally integrated HHV-6B
por: Obeid, Michele, et al.
Publicado: (2021)

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature
por: Popescu, Roxana, et al.
Publicado: (2021)

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)

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
por: Coton, Julie, et al.
Publicado: (2018)

A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13)
por: Paar, Christian, et al.
Publicado: (2013)

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

Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature
por: Orrico, Alfredo, et al.
Publicado: (2016)

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)

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
por: Sabatini, Peter J. B., 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)

A novel unbalanced de novo translocation der(5)t(4;5)(q26;q21.1) in adult T-cell precursor lymphoblastic leukemia
por: Kjeldsen, Eigil, et al.
Publicado: (2012)

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

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development
por: Jespersgaard, Cathrine, et al.
Publicado: (2016)

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report
por: Lekszas, Caroline, et al.
Publicado: (2019)

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

Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation
por: Singla, Shilpy, et al.
Publicado: (2014)

Secondary reconstruction of below knee amputation stump with free anterolateral thigh flap
por: Kadam, Dinesh
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_kqfdgsfqn0bsafcib9smk7fk6i