Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study [PDF]
BMC Medical Genomics, 2023 Objective To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients. Methods This retrospective cohort study was conducted at the Third Affiliated Hospital of
Shanshan Wu +8 more
doaj +2 more sources
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia [PDF]
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 +7 more
doaj +2 more sources
A Case of Partial Trisomy of 10q and Partial Monosomy of 6p Resulting from Maternal t(6;10) (p23;q24) [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations.
ANJALI SATYEN SABNIS +2 more
doaj +1 more source
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 +6 more
doaj +1 more source
Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
Molecular Cytogenetics, 2023 Background Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered ...
Shanshan Shi +3 more
doaj +1 more source
Transferring Desirable Genes from Agropyron cristatum 7P Chromosome into Common Wheat. [PDF]
PLoS ONE, 2016 Wheat-Agropyron cristatum 7P disomic addition line Ⅱ-5-1, derived from the distant hybridization between A. cristatum (2n = 4x = 28, PPPP) and the common wheat cv.
Mingjie Lu +9 more
doaj +1 more source
Three-dimensional genome architecture influences partner selection for chromosomal translocations in human disease. [PDF]
PLoS ONE, 2012 Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs), a process that requires spatial ...
Jesse M Engreitz +2 more
doaj +1 more source
A rare case of acute myeloid leukemia with t(12;19)(q13;q13)
Leukemia Research Reports, 2020 Acute myeloid leukemia (AML) is characterized by chromosomal abnormalities affecting both prognosis and course of treatment. While most AML patients have well described chromosomal aberrations, around 10% present with rare chromosomal abnormalities.We ...
Alain Chebly +8 more
doaj +1 more source
Molecular Cytogenetics, 2021 Background The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2.
Shiba Ranjan Mishra +6 more
doaj +1 more source
Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla [PDF]
, 1992 The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined ...
Bigoni, F. +5 more
core +1 more source