Cargando…

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting, helped to characterize the sSMC which resulted...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rodríguez, Laura, Liehr, Tomas, Martínez-Fernández, María Luisa, Lara, Ana, Torres, Antonio, Martínez-Frías, María Luisa
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2008
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375880/ https://www.ncbi.nlm.nih.gov/pubmed/18471313 http://dx.doi.org/10.1186/1755-8166-1-4

Ejemplares similares

The Second Case of Non-Mosaic Trisomy of Chromosome 26 with Homologous Fusion 26q;26q in the Horse
por: Ghosh, Sharmila, et al.
Publicado: (2022)

Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
por: Liehr, Thomas, et al.
Publicado: (2010)

Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito
por: Cunha, Karina S., et al.
Publicado: (2016)

Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
por: Ko, Jung Min, et al.
Publicado: (2010)

Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report
por: Fernández-Toral, Joaquín, et al.
Publicado: (2010)

Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
por: Silva, Maria Luiza Macedo, et al.
Publicado: (2009)

High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus
por: Wang, Xiaoju, et al.
Publicado: (2002)

Small supernumerary marker chromosomes – an update
por: Liehr, Thomas
Publicado: (2014)

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes
por: Baba, Naomi, et al.
Publicado: (2022)

Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion
por: Liu, Yanyan, et al.
Publicado: (2018)

Mosaic 15q duplication syndrome (tetrasomy 15q11.1-q13.2) in a child with behavior disorders: case report
por: Rodrigues, Maurício A., et al.
Publicado: (2019)

Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review
por: Liehr, Thomas, et al.
Publicado: (2019)

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay
por: Kobow, Katja, et al.
Publicado: (2020)

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

Role of the ENPP1 K121Q Polymorphism in Glucose Homeostasis
por: Baratta, Roberto, et al.
Publicado: (2008)

Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report
por: Mohammadi, Reza, et al.
Publicado: (2021)

An unusual combination of trisomy 21 and partial trisomy 5q.
por: Kim, C. J., et al.
Publicado: (1992)

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
por: Lo-A-Njoe, Shirley, et al.
Publicado: (2016)

A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features
por: Türkyılmaz, A, et al.
Publicado: (2020)

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue
por: Matsubara, Keiko, et al.
Publicado: (2020)

Genetic Variants at Chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 Influence the Risk of Breast Cancer in Men
por: Orr, Nick, et al.
Publicado: (2011)

Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion
por: Kurtulgan, Hande Küçük, et al.
Publicado: (2015)

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
por: Morán‐Barroso, Verónica Fabiola, et al.
Publicado: (2021)

Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy
por: Ribacoba, Renee, et al.
Publicado: (2008)

AB183. Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1-24.3 and complex chromosome rearrangement
por: Zhou, Yang, et al.
Publicado: (2014)

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

ERα-related chromothripsis enhances concordant gene transcription on chromosome 17q11.1-q24.1 in luminal breast cancer
por: Lin, Chun-Lin, et al.
Publicado: (2020)

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
por: Kim, Yeo-Hyang, et al.
Publicado: (2013)

Adult case of partial trisomy 9q
por: Tiong, Keith, et al.
Publicado: (2010)

Small supernumerary marker chromosomes derived from chromosome 14 and/or 22
por: Liehr, Thomas, et al.
Publicado: (2021)

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report
por: Odak, Ljubica, et al.
Publicado: (2011)

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
por: Chen, Rongyu, et al.
Publicado: (2014)

Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
por: Christofolini, Denise M, et al.
Publicado: (2014)

Small supernumerary marker chromosomes and their correlation with specific syndromes
por: Jafari-Ghahfarokhi, Hamideh, et al.
Publicado: (2015)

Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1➔qter in prenatal diagnosis: a case report
por: Altieri, Vincenzo, et al.
Publicado: (2014)

Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects
por: Zlotina, Anna, et al.
Publicado: (2016)

Complex small supernumerary marker chromosomes – an update
por: Liehr, Thomas, et al.
Publicado: (2013)

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report
por: Aleksiūnienė, Beata, et al.
Publicado: (2017)

Cellular consequences of small supernumerary marker chromosome derived from chromosome 12: mosaicism in daughter and father
por: Freitas, M.O., et al.
Publicado: (2022)

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
por: Huijsdens-van Amsterdam, Karin, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_bmrrgquh5tidlalhnp2qe5dqu0