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 +7 more
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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 +5 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 +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 +7 more
doaj +2 more sources
Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days. [PDF]
Folia Histochemica et Cytobiologica, 2010 Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease,
Mei Wang +7 more
doaj +4 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
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 +8 more
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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 +8 more
doaj +2 more sources
A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report [PDF]
Molecular Cytogenetics, 2020 Background Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of ...
Li Gao +11 more
doaj +2 more sources
Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion [PDF]
F&S Reports, 2021 Objective: To define criteria for determining when preimplantation genetic testing for aneuploidy (PGT-A) results are suggestive of a potential balanced chromosomal rearrangement in the egg or sperm source and warrant karyotyping.
Alyssa C. Snider, Ph.D., C.G.C. +5 more
doaj +2 more sources