Zobrazeno 1 - 10
of 112
pro vyhledávání: '"isodicentric chromosome"'
Publikováno v:
Clinical Case Reports, Vol 9, Iss 4, Pp 2340-2344 (2021)
Abstract Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result
Externí odkaz:
https://doaj.org/article/4dfdd66f0ff149ac8abc4d12044d6741
Publikováno v:
Case Reports in Neurology, Vol 12, Iss 3, Pp 270-275 (2020)
Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down
Externí odkaz:
https://doaj.org/article/d2b439795b574b46b7198c3115a98aee
Akademický článek
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Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Background ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there ha
Externí odkaz:
https://doaj.org/article/e929ed700e364723a046b308da161a86
Autor:
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 5, Pp 728-732 (2016)
Objective: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. Case Report: A 35-y
Externí odkaz:
https://doaj.org/article/039697c409724e929f3874976a960b14
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 4, Pp 2340-2344 (2021)
Clinical Case Reports, Vol 9, Iss 4, Pp 2340-2344 (2021)
Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab55ea4e81ede440c178fab0bb6e92c0
http://europepmc.org/articles/PMC8077311
http://europepmc.org/articles/PMC8077311
Akademický článek
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Autor:
Agatino Battaglia
Publikováno v:
Cassidy and Allanson's Management of Genetic Syndromes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9527113ac9f2d9f8e91ea04124f10ffd
https://doi.org/10.1002/9781119432692.ch33
https://doi.org/10.1002/9781119432692.ch33
Publikováno v:
Pediatric and Developmental Pathology. 23:392-398
The occurrence of monochorionic diamniotic twins with sex discordance is a very rare phenomenon. We present a case of spontaneously conceived gender-discordant monochorionic diamniotic twins born to a 23-year-old female, both twins demonstrating simi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::456c554d0780b56f25d193f827930f5a
https://doi.org/10.1177/1093526620908459
https://doi.org/10.1177/1093526620908459
Autor:
Lisa-Marie Vieler, Verena Nilius-Eliliwi, Roland Schroers, Deepak Ben Vangala, Huu Phuc Nguyen, Wanda Maria Gerding
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 686
(1) Background: In acute lymphoblastic leukemia (ALL) the genetic characterization remains challenging. Due to the genetic heterogeneity of mutations in adult patients, only a small proportion of aberrations can be analyzed with standard routine diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459205a5b7af64feed4d029bedb02a97
https://doi.org/10.3390/genes14030686
https://doi.org/10.3390/genes14030686