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
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
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
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 +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 HealthObjectiveTo 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 +13 more
doaj +2 more sources
Gene sequencing and result analysis of balanced translocation carriers by third-generation gene sequencing technology. [PDF]
Sci Rep, 2023 Zeng X +6 more
europepmc +3 more sources
Balanced reciprocal translocation: Multiple chromosome rearrangements in an infertile female
Journal of Human Reproductive Sciences, 2019 Double reciprocal translocations and triple-balanced reciprocal translocations multiple chromosome rearrangements are very rare events in the phenotypically normal individuals. Chromosome analysis with 500-band resolution was performed and analyzed in an
Neelam Gupta +3 more
doaj +2 more sources
Expectant management and live birth outcomes for male balanced-translocation carriers: Two case reports and a literature review. [PDF]
Medicine (Baltimore), 2020 Fan H, Wang X, Yang X, Zheng H, Feng S.
europepmc +2 more sources
Balanced Autosomal Translocations in Two Women Reporting Recurrent Miscarriage
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2016 Spontaneous abortion or loss of fetus prior to 20 weeks of gestation is observed in 15-20% of clinically recognized pregnancies. Recurrent Miscarriage (RM) is defined as three or more consecutive pregnancy losses and it affects 1-2% of women. Parental chromosomal rearrangements account for 2-5% of RM.
Brindha Arumugam +2 more
openaire +4 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 +6 more
doaj +1 more source