Zobrazeno 1 - 10
of 1 941
pro vyhledávání: '"partial trisomy"'
Autor:
Chih-Ping Chen, Shun-Long Weng, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 909-912 (2024)
Objective: We present first-trimester application of expanded non-invasive prenatal testing (NIPT) in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.
Externí odkaz:
https://doaj.org/article/08715fcd276149e3925dea0af7175041
Autor:
Chih-Ping Chen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 624-627 (2024)
Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic duplication due to partial trisomy has been reported to b
Externí odkaz:
https://doaj.org/article/292b93f84a344c39860de93509f16c28
Autor:
Shuang Zhang, Qianwei Cui, Shangying Yang, Fangxia Zhang, Chunxia Li, Xiaoguang Wang, Bo Lei, Xunlun Sheng
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background Patients with complex phenotypes and a chromosomal translocation are particularly challenging, since several potentially pathogenic mechanisms need to be investigated. Case presentation Here, we combined exome and genome sequencin
Externí odkaz:
https://doaj.org/article/3fd503e61d6149beb1a6f9046c32eced
Autor:
Fatima Ouboukss, Zhour El Amrani, Hicham Bouchahta, Ilham Ratbi, Aziza Sbiti, Thomas Liehr, Abdelaziz Sefiani, Abdelhafid Natiq
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction: The majority of small supernumerary marker chromosomes (sSMCs) are derived from one single chromosome. Complex sSMCs, on the other hand, consist of genetic material derived from more than one, normally two chromosomes. Complex sSMCs inv
Externí odkaz:
https://doaj.org/article/d41a9bacfd38469f92632042d1f9a6a3
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-5 (2023)
Abstract Background Subchromosomal deletions and duplications are the leading cause of congenital malformations and mental retardation in children. With the recent clinical application of genomic microarrays in the evaluation of patients with develop
Externí odkaz:
https://doaj.org/article/c3d51f8a49e345718f4bbd1f5b070732
Autor:
Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracausi
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)
Abstract Background Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or no
Externí odkaz:
https://doaj.org/article/61a934a38f564fcf9c7c6365b4e867c6
Akademický článek
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Akademický článek
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Akademický článek
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Autor:
Jianlong Zhuang, Chunnuan Chen, Hegan Zhang, Wanyu Fu, Yanqing Li, Yuying Jiang, Shuhong Zeng, Xiaoxia Wu, Yingjun Xie, Gaoxiong Wang
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Background Partial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is extremely rare. Here, we report two new unrelated cases of partial trisomy 13q in Chinese
Externí odkaz:
https://doaj.org/article/b51de13cba9143fbadb97307ac1406d4