Cargando…

Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p

Trisomy 17 is a rare chromosomal disorder. Existing literature on the topic is limited and mostly refer to mosaic Trisomy 17 cases. Our report summarizes the 70‐day clinical course of a late preterm neonate with partial Trisomy 17p karyotype 46,XY,der(14)t(14;17)(p11.1;p11.2) dpat. Trisomy 17 due to...

Descripción completa

Detalles Bibliográficos
Autores principales:	Musabi, Melab, Saker, Ayman, Baer, Jessi, Wang, Peter, Mohseni Meybodi, Anahita, Prasad, Chitra, Bhattacharya, Soume
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536500/ https://www.ncbi.nlm.nih.gov/pubmed/36237944 http://dx.doi.org/10.1002/ccr3.6343

Ejemplares similares

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)

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)

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

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

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

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)

An uninformative NIPT as an early indicator of cri‐du‐chat due to a chromosomal 5;18 translocation—An atypical presentation of a rare cytogenetic phenomenon
por: Shukla, Devanshi, et al.
Publicado: (2023)

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
por: Joynt, Alyssa C. M., et al.
Publicado: (2021)

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

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

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

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)

Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report
por: Li, Rui, et al.
Publicado: (2023)

Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation: A case report
por: Xie, Hui-Hui, et al.
Publicado: (2021)

Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant
por: Abuhamda, Allam, et al.
Publicado: (2019)

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

Sonographic Findings in Partial Type of Trisomy 18
por: Niknejadi, Maryam, et al.
Publicado: (2014)

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

Impact of pericentric inversion of Chromosome 9 [inv (9) (p11q12)] on infertility
por: Mozdarani, Hossein, et al.
Publicado: (2007)

Partial Trisomy 9p(p22→pter) from a Maternal Translocation 4q35 and 9p22
por: Mahjoubi, F, et al.
Publicado: (2011)

A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy
por: M’Kacher, Radhia, 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)

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

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

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)

A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure
por: Mozdarani, Hossein, et al.
Publicado: (2008)

Editorial: Implementation of genomic and epigenomic innovation in clinical cancer diagnostics
por: Schenkel, Laila C., et al.
Publicado: (2023)

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)

Complex translocation (8;8;21) with additional trisomy 4 in acute myelogenous leukemia
por: Lee, Jae-Hee, et al.
Publicado: (2010)

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases
por: Conconi, Donatella, 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)

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)

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)

Partial trisomy 9: prenatal diagnosis and recurrence within same family
por: López‐Félix, Jana, et al.
Publicado: (2017)

A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death
por: Chakraborty, Abhik, et al.
Publicado: (2019)

SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts
por: Treff, Nathan R., et al.
Publicado: (2016)

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

Cannot write session to /tmp/vufind_sessions/sess_u7pqlk01gjadp8pat0c2acu26c