Balanced Autosomal Translocations  in Two Women Reporting Recurrent  Miscarriage

Arumugam, Brindha; Samuel, Chandra R; Thyagarajan, Santhiya Sathiyavedu

doi:10.7860/jcdr/2016/23828.9075

Cited by 5 publications

(7 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Parental chromosomal rearrangements have been reported in 2–5% of the couples with unsuccessful pregnancy ( 7 ). These anomalies include reciprocal and Robertsonian translocations, insertions, inversions and mosaicism ( 12 ). Robertsonian translocations account for 35% of the cases carrying a translocation, while 65% of the cases are of reciprocal type ( 12 ).…”

Section: Discussionmentioning

confidence: 99%

“…These anomalies include reciprocal and Robertsonian translocations, insertions, inversions and mosaicism ( 12 ). Robertsonian translocations account for 35% of the cases carrying a translocation, while 65% of the cases are of reciprocal type ( 12 ). Reciprocal translocations, found in 1 out of 500 people, do not produce any phenotypic effects but usually result in recurrent miscarriages, or offspring with chromosomal abnormalities, or infertility in the carriers ( 13 ).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A Novel Balanced Chromosomal Translocation in an Azoospermic Male: A Case Report

Ak¹,

Palo²,

S³

et al. 2021

JRI

View full text Add to dashboard Cite

Background: Balanced translocation and azoospermia as two main reasons for recurrent pregnancy loss are known to be the leading causes of infertility across the world. Balanced translocations in azoospermic males are very rare and extensive studies need to be performed to elucidate the translocation status of the affected individuals. Case Presentaion: The cytogenetic characterization of a 28 year old male and his female partner is reported in this study. The male partner was diagnosed with non-obstructive azoospermia (NOA) and the couple was unable to conceive. Cytogenetic analysis by karyotyping through Giemsa-trypsin-giemsa banding technique (GTG) showed a novel balanced translocation, 46,XY,t(19;22)(19q13.4;22q11.2), 13ps+ in the male and the female karyotype was found to be 46,XX. Multicolor fluorescence in situ hybridization (mFISH) analysis on paternal chromosomal preparations con-firmed both the region and origin of balanced translocation. The status of Y chromo-some microdeletion (YMD) was analyzed and no notable microdeletion was ob-served. Furthermore, protein-protein interaction (PPI) network analysis was per-formed for breakpoint regions to explore the possible functional genetic associations. Conclusion: The azoospermic condition of the male patient along with novel bal-anced chromosomal translocation was responsible for infertility irrespective of its YMD status. Therefore, cytogenetic screening of azoospermic patients should be performed in addition to routine semen analysis to rule out or to confirm presence of any numerical or structural anomaly in the patient.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Novel Balanced Chromosomal Translocation in an Azoospermic Male: A Case Report

Ak¹,

Palo²,

S³

et al. 2021

JRI

View full text Add to dashboard Cite

show abstract

“…However, the reproductive risks may be different for male and female carriers of the same translocation. One report of a paternally inherited translocation resulted in four miscarriages in the carrier daughter [54]. Therefore, although the t(12;20)(q24.3;q11.2) translocation did not appear to provoke infertility in the father, or recurrent miscarriages within the couple, the situation may be different for his offspring, in particular his daughter.…”

Section: Discussionmentioning

confidence: 99%

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

Erkilic

Gatinois²,

Torriano

et al. 2019

Cells

View full text Add to dashboard Cite

Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they are prone to genetic instability. Furthermore, genetically unstable iPSCs are often discarded, as they can have unforeseen consequences on pathophysiological or therapeutic read-outs. We generated iPSCs from two brothers of a previously unstudied family affected with the inherited retinal dystrophy choroideremia. We detected complex rearrangements involving chromosomes 12, 20 and/or 5 in the generated iPSCs. Suspecting an underlying chromosomal aberration, we performed karyotype analysis of the original fibroblasts, and of blood cells from additional family members. We identified a novel chromosomal translocation t(12;20)(q24.3;q11.2) segregating in this family. We determined that the translocation was balanced and did not impact subsequent retinal differentiation. We show for the first time that an undetected genetic instability in somatic cells can breed further instability upon reprogramming. Therefore, the detection of chromosomal aberrations in iPSCs should not be disregarded, as they may reveal rearrangements segregating in families. Furthermore, as such rearrangements are often associated with reproductive failure or birth defects, this in turn has important consequences for genetic counseling of family members.

show abstract

“…Although they often have normal phenotypes, but the risk of producing unbalanced gametes is high (typically approximately 70%) due to the abnormal segregation of rearranged chromosomes during meiosis [ 2 , 3 ]. The unbalanced gametes will lead to apparent infertilities [ 4 ], recurrent miscarriages [ 5 , 6 ] or other congenital abnormalities [ 4 , 7 ]. Therefore, it is of great significance to prevent balanced translocations from being passed to the next generation by assisted reproductive technology (ART) and PGT.…”

Section: Introductionmentioning

confidence: 99%

BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers

Zhang

Zhao²,

Zhang³

et al. 2019

BMC Med Genomics

View full text Add to dashboard Cite

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 a normal karyotype prior to implantation.MethodsTo solve this problem, we developed a method named “Chromosomal Phasing on Base level” (BasePhasing), which based on Infinium Asian Screening Array-24 v1.0 (ASA) and a specially phasing pipeline. Firstly, by comparing the number of single nucleotide polymorphism (SNP) loci in different minor allele frequencies (MAFs) and in 2Mbp continuous windows of ASA chip and karyomap-12 chip, we verified whether ASA could be adopted for genome-wide haplotype linkage analysis. Besides, the whole gene amplification (WGA) of 3–10 cells of GM16457 cell line was used to verify whether ASA chip could be used for testing of WGA products. Finally, two balanced translocation families were utilized to carry out BasePhasing and to validate the feasibility of its clinical application.ResultsThe average number of SNP loci in each window of ASA (473.2) was twice of that of Karyomap-12 (201.2). The coincidence rate of SNP loci in genomic DNA and WGA products was about 97%. The 5.3Mbp deletion was detected positively in cell line GM16457 of both genomic DNA and WGA products, and haplotype linkage analysis was performed in genome wide successfully. In the two balanced translocation families, 18 blastocysts were analyzed, in which 8 were unbalanced and the other 10 were balanced or normal chromosomes. Two embryos were transferred back to the patients successfully, and prenatal cytogenetic analysis of amniotic fluid was performed in the second trimester. The results predicted by BasePhasing and prenatal diagnosis were totally consistent.ConclusionsInfinium ASA bead chip based BasePhasing pipeline shows good performance in balanced translocation carrier testing. With the characteristics of simple operation procedure and accurate results, we demonstrate that BasePhasing is one of the most suitable methods to distinguish between balanced and structurally normal chromosome embryos from translocation carriers in PGT at present.Electronic supplementary materialThe online version of this article (10.1186/s12920-019-0495-6) contains supplementary material, which is available to authorized users.

show abstract

Balanced Autosomal Translocations in Two Women Reporting Recurrent Miscarriage

Cited by 5 publications

References 11 publications

A Novel Balanced Chromosomal Translocation in an Azoospermic Male: A Case Report

A Novel Balanced Chromosomal Translocation in an Azoospermic Male: A Case Report

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers

Contact Info

Product

Resources

About