Results 1 to 10 of about 105,723 (318)

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 [PDF]

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   +4 more sources

Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second trimester [PDF]

Heliyon
Prenatal diagnosis is crucial for pregnancies from couples with a carrier of a balanced translocation. We retrospectively reviewed 195 pregnancies from 189 couples with a balanced translocation carrier.
Xiaoqing Wu, Shengrong Du, Bin Liang, Linjuan Su, Ying Li, Yuqin Chen, Lin Zheng, Na Lin, Hailong Huang, Liangpu Xu   +9 more
doaj   +3 more sources

Dysgerminoma of the Left Ovary in a Patient with Balanced Translocation 46X, t(X:1) (q22;q21): A Case Report [PDF]

International Medical Case Reports Journal, 2023
Koh Nagata, Takako Shimada, Chiaki Eishi, Masaki Nishi, Toru Murakami, Kazuaki Ohashi, Itsuki Kajimura, Kiyonori Miura Obstetrics and Gynecology, Nagasaki University Hospital, Nagasaki, JapanCorrespondence: Koh Nagata, Obstetrics and Gynecology, Nagasaki
Nagata K, Shimada T, Eishi C, Nishi M, Murakami T, Ohashi K, Kajimura I, Miura K   +7 more
doaj   +2 more sources

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   +3 more sources

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 [PDF]

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   +2 more sources

Reproductive Risk Estimation Calculator for Balanced Translocation Carriers. [PDF]

Curr Protoc, 2022
AbstractBalanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain
Trunca C, Mendell NR, Schilit SLP.
europepmc   +3 more sources

De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation [PDF]

Molecular Cytogenetics, 2021
Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai, Ran Meng   +5 more
doaj   +2 more sources

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family [PDF]

Molecular Cytogenetics, 2018
Background Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes.
Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai, Yi Liu   +8 more
doaj   +2 more sources

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   +2 more sources

BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers [PDF]

BMC Medical Genomics, 2019
Background Preimplantation genetic testing (PGT) has already been applied in chromosomally balanced translocation carriers to improve the clinical outcome of assisted reproduction.
Shuo Zhang, Dingding Zhao, Jun Zhang, Yan Mao, Lingyin Kong, Yueping Zhang, Bo Liang, Xiaoxi Sun, Congjian Xu   +8 more
doaj   +2 more sources