Results 1 to 10 of about 57,297 (238)

A novel t(2;10)(q31;p12) balanced translocation in acute myeloid leukemia [PDF]

Hematology Reports, 2012
We describe a case of acute myeloid leukemia M5 showing a balanced t(2;10)(q31;p12) translocation. This has never been described before as the sole cytogenetic abnormality in a bone marrow cell clone at onset.
Luciana Impera, Giulia Daniele, Luisa Marra, Carmen Baldazzi, Ilaria Iacobucci, Giovanni Martinelli, Nicoletta Testoni, Clelia Tiziana Storlazzi   +7 more
openalex   +3 more sources

Clinical effect of chromosome balanced translocation study of the effect on genomic stability

生物医学转化, 2022
Objective To explore the effect of chromosome balanced translocation on genomic stability. Methods Abnormal embryos from patients with preimplantation genetic testing for structural rearrangements (PGTSR) indication between January 2019 and December 2020
Gao Ming, Wang Lijuan, Zou Yang, Xie Hongqiang, Liu Xiaowei, Huang Sexin, Gao Yuan   +6 more
doaj   +1 more source

A case–control study identifying the frequency and spectrum of chromosomal anomalies and variants in a cohort of 1000 couples with a known history of recurrent pregnancy loss in the Eastern region of India

Journal of Human Reproductive Sciences, 2021
Background: Recurrent pregnancy loss (RPL) is a common occurrence that affects up to 15% of couples in their reproductive years. In both males and females with RPL and infertility, chromosomal abnormalities play a significant impact.
Abhik Chakraborty, Sujata Kar, Purna Chandra Mohapatra, Birendranath Banerjee   +3 more
doaj   +1 more source

The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account [PDF]

Journal of Clinical and Diagnostic Research, 2019
Introduction: The balanced translocation t(11;22) is one of the most common constitutional genetic abnormality detected in humans. Carriers of the t(11;22) are usually phenotypically normal and their carrier status is ascertained only if they present ...
Vandana Kamath, Vivi M Srivastava, S Yuvarani, Mary Purna Chacko, Saurabh Kumar Bhattacharya, Samuel Phillip Oommen, Sumita Danda, George Korula   +7 more
doaj   +1 more source

One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report

BMC Medical Genomics, 2021
Background Cryptic balanced translocations often evade detection by conventional cytogenetics. The preimplantation genetic testing (PGT) technique can be used to help carriers of balanced translocations give birth to healthy offspring; however, for ...
Xiliang Wang, Changsheng Wu, Dongmei Hao, Jinyan Zhang, Chang Tan, De-hua Cheng, Jia Fei, Yuexin Yu   +7 more
doaj   +1 more source

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

Molecular Genetics & Genomic Medicine, 2020
Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome.
Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. Tørring   +7 more
doaj   +1 more source

Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature

Reproductive Biology and Endocrinology, 2021
Background Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth.
Dun Liu, Chuangqi Chen, Xiqian Zhang, Mei Dong, Tianwen He, Yunqiao Dong, Jian Lu, Lihua Yu, Chuanchun Yang, Fenghua Liu   +9 more
doaj   +1 more source

Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes

Frontiers in Genetics, 2022
Preimplantation genetic testing plays a critical role in enabling a balanced translocation carrier to obtain the normal embryo. Identifying the precise breakpoints for the carriers with phenotypic abnormity, allows us to reveal disrupted genes.
Yanan Wang, Zhenhua Zhao, Xinyu Fu, Shufang Li, Qiuyan Zhang, Xiangdong Kong   +5 more
doaj   +1 more source

Balanced Reciprocal Translocations Detected at Amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present perinatal findings, modes of ascertainment and parental decision in balanced reciprocal translocations detected at amniocentesis.
Chih-Ping Chen, Pei-Chen Wu, Chen-Ju Lin, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Li-Feng Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +12 more
doaj   +1 more source

Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing

BMC Genomics, 2023
Background Balanced reciprocal translocation (BRT) is one of the most common chromosomal abnormalities that causes infertility, recurrent miscarriage, and birth defects.
Qiuping Xia, Shenglan Li, Taoli Ding, Zhen Liu, Jiaqi Liu, Yanping Li, Huimin Zhu, Zhongyuan Yao   +7 more
doaj   +1 more source