Results 21 to 30 of about 103,499 (299)

Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report [PDF]

Molecular Cytogenetics, 2019
Background Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the same time, these
Olga Tšuiko, Tuuli Dmitrijeva, Katrin Kask, Pille Tammur, Neeme Tõnisson, Andres Salumets, Tatjana Jatsenko   +6 more
doaj   +2 more sources

Case Report: Prenatal diagnosis of a rare complex fetal karyotype 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat resulting from 3:1 meiotic segregation of a maternal balanced translocation [PDF]

Frontiers in Reproductive Health
ObjectiveTo characterize a rare fetal complex chromosomal rearrangement (CCR) derived from a maternal balanced translocation using integrated G-banding and CNV-seq analysis.MethodsIntegrated G-banding and CNV-seq enabled precise karyotypic determination ...
G. S. Deng, D. H. Zhang, Y. Q. Lai, J. J. Song, J. J. Pan, X. F. Liang, Y. H. Lu, S. S. Ning, W. C. Li, X. Li, Y. Y. Chen, D. R. Li, L. L. Li, Y. N. Liang   +13 more
doaj   +2 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   +2 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

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

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

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source