A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death.
Sign Up to like & getrecommendations! Published in 2019 at "Heart rhythm"
DOI: 10.1016/j.hrthm.2018.08.027
Abstract: BACKGROUND Brugada syndrome (BrS) is a primary arrhythmia syndrome affecting 1 in 2000 of the general population. Genetic testing identifies pathogenic variants in the sodium voltage-gated channel α-subunit 5 gene (SCN5A) in up to 25%… read more here.
Keywords: balanced translocation; sudden cardiac; cardiac death; family ... See more keywords
Nance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1363245
Abstract: ABSTRACT The Nance–Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally… read more here.
Keywords: horan syndrome; nhs gene; balanced translocation; nance horan ... See more keywords
Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98
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DOI: 10.1159/000479463
Abstract: A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy… read more here.
Keywords: balanced translocation; renal aml; translocation; disrupting nup98 ... See more keywords
The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples
Sign Up to like & getrecommendations! Published in 2020 at "Cytogenetic and Genome Research"
DOI: 10.1159/000512847
Abstract: The purpose of this study was to evaluate the effectiveness of next-generation sequencing (NGS)-based preimplantation genetic testing (PGT) for balanced translocation carriers to identify normal/balanced blastocysts and to measure pregnancy outcomes following euploid embryo transfer.… read more here.
Keywords: pregnancy; balanced translocation; translocation carriers; translocation ... See more keywords
A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genomics"
DOI: 10.1186/s12920-018-0366-6
Abstract: BackgroundParental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female… read more here.
Keywords: balanced translocation; qter; partial trisomy; trisomy 7q22 ... See more keywords
BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0495-6
Abstract: BackgroundPreimplantation genetic testing (PGT) has already been applied in chromosomally balanced translocation carriers to improve the clinical outcome of assisted reproduction. However, traditional methods could not further distinguish embryos carrying a translocation from those with… read more here.
Keywords: balanced translocation; asa; translocation carriers; translocation ... See more keywords
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
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-00938-7
Abstract: 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 carriers of cryptic… read more here.
Keywords: cerebral palsy; palsy glaucoma; balanced translocation; birth ... See more keywords
Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-017-0349-x
Abstract: BackgroundBalanced 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. Here we describe a four-generation family… read more here.
Keywords: intellectual disability; balanced translocation; family; translocation ... See more keywords
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-019-0444-2
Abstract: BackgroundBalanced 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 individuals… read more here.
Keywords: detection balanced; balanced translocation; case; translocation carriers ... See more keywords
Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports
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DOI: 10.1186/s13256-021-02848-9
Abstract: Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An… read more here.
Keywords: recurrent spontaneous; spontaneous abortion; balanced translocation; translocation chromosomes ... See more keywords
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
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.883398
Abstract: 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. In… read more here.
Keywords: seemingly balanced; microduplication; deletion; translocation ... See more keywords