Robertsonian translocation (13;14) and its clinical manifestations: a literature review

Tunç, Erdal; Ilgaz, Seda

doi:10.1016/j.rbmo.2022.05.019

Cited by 7 publications

(4 citation statements)

References 87 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…They may result in pre-gestational or gestational infertility. A well-studied example of such an anomaly is the Robertsonian (13;14) translocation, which has been reported to be inheritable, with an unpredictable phenotype ranging from asymptomatic spectrum to mental retardation among family carriers [ 28 ]. The prevalence of balanced translocations is regarded as low, and some authors advocate that neither semen parameters nor a history of RPL are reliable for triggering screening [ 29 ].…”

Section: Resultsmentioning

confidence: 99%

“…However, translocations and microdeletions have been reported to be present despite normal semen parameters, and they may result in abnormal meiosis and embryonal development [ 48 ]. Furthermore, carriers may transmit these anomalies with various manifestations [ 28 , 31 ]. Therefore, in cases of an already known abnormality, RPL without apparent cause and normospermia, and family history of recurrent miscarriages, couples could be advised to undergo advanced diagnostics.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Recurrent miscarriage and male factor infertility: diagnostic and therapeutic implications. A narrative review.

2023

Cent European J Urol

View full text Add to dashboard Cite

Introduction Recurrent miscarriage is defined as 2 or more failed clinical pregnancies, typically known as repeated pregnancy loss, occurring before 20 gestational weeks, and further categorized into primary and secondary types. It represents a common and distressing condition to deal with in the field of reproductive medicine, usually affecting <5% of couples, with up to 50% of cases lacking a clearly defined aetiology. The epidemiology also varies depending on maternal age. Remarkably, the situation significantly afflicts expecting parents, whereas maternal factors, such as age and previous pregnancy loss rate, are commonly reported as risk factors. Although previously underestimated, existing evidence suggests the male factor is a possible cause of recurrent pregnancy loss. Material and methods A non-systematic literature review was conducted in the PubMed and Scopus databases for articles written in English investigating the possible association of the male factor in recurrent pregnancy loss. The eligible studies were synthesized in a narrative review format upon discussion and consensus among the authors after being previously independently assessed and selected. Results Lifestyle, obesity, genetic predisposition, chromosomal anomalies, endocrine dysfunction, anatomical abnormalities, immunological factors, infections, and oxidative stress can result in poor embryo development and recurrent miscarriage. Although professional organizations currently recognize male gender as a possible risk factor, specific recommendations on the diagnostic and therapeutic field are still lacking, and the condition necessitates a high level of suspicion and case-by-case management. Conclusions In this review, we delve deeper into the contribution of the male factor in the concept of recurrent miscarriage.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Recurrent miscarriage and male factor infertility: diagnostic and therapeutic implications. A narrative review.

2023

Cent European J Urol

View full text Add to dashboard Cite

show abstract

“…The most common form of RT is rob (13;14), accounting for 75% of all RT cases. Carriers of this form are known to have a high likelihood of male infertility and recurrent pregnancy loss [10].…”

Section: Chromosome Abnormalities In Infertile Couplesmentioning

confidence: 99%

Genomic aspects in reproductive medicine

Go,

Shim

2024

Clin Exp Reprod Med

View full text Add to dashboard Cite

Infertility is a complex disease characterized by extreme genetic heterogeneity, compounded by various environmental factors. While there are exceptions, individual genetic and genomic variations related to infertility are typically rare, often family-specific, and may serve as susceptibility factors rather than direct causes of the disease. Consequently, identifying the cause of infertility and developing prevention and treatment strategies based on these factors remain challenging tasks, even in the modern genomic era. In this review, we first examine the genetic and genomic variations associated with infertility, and subsequently summarize the concepts and methods of preimplantation genetic testing in light of advances in genome analysis technology.

show abstract

“…Balanced RobTs are typically identified in adults who exhibit a normal phenotype. Conversely, unbalanced RobTs are predominantly detected in children and are associated with a diverse range of clinical manifestations ( 2 ). In a RobT-balanced karyotype, there are only 45 chromosomes, including the translocated one.…”

Section: Introductionmentioning

confidence: 99%

Homozygosity for Robertsonian Translocation (14q;15q) in a Newborn with a Familial History of Recurrent Abortion and Newborns Affected by Hepatosplenomegaly: A Case Report

Sahraeean,

Jebelli,

Shahbazi

et al. 2023

JRI

View full text Add to dashboard Cite

Background: Robertsonian translocations (RobTs) are one of the major chromosomal abnormalities which lead to spontaneous abortion. They occur in the human population at the rate of 1 in 1000 live infants. In this paper, a family carrying one of the rare RobTs was presented and some features of all kinds of RobTs were reviewed. Case Presentation: A couple with a history of three miscarriages was referred to Omid Health Clinic of Hamadan, Iran. The karyotype of the woman was 45,XX, rob(14;15)(q10;q10) and she exhibited phenotypically good health. Karyotype analysis of proband’s uncle and his wife with a consanguineous marriage revealed that they were both carriers of rob(14;15). This couple had six offspring, three of which were dead, and the other three were alive with a normal phenotype. Besides, this couple had an unborn child, with a karyotype of 44,XX,rob(14;15)(q10;q10). Conclusion: These observations showed that genetic counseling, pedigree, and chromosomal analysis are needed to discover the cause of spontaneous abortion, stillbirth, congenital anomalies, sudden infant death syndrome (SIDS), etc. Moreover, families carrying RobTs would be offered prenatal diagnosis screening tests and, if necessary, assisted reproductive technology methods to assist with preimplantation genetic test for structural rearrangement (PGT-SR) reproduction.

show abstract

Robertsonian translocation (13;14) and its clinical manifestations: a literature review

Cited by 7 publications

References 87 publications

Recurrent miscarriage and male factor infertility: diagnostic and therapeutic implications. A narrative review.

Recurrent miscarriage and male factor infertility: diagnostic and therapeutic implications. A narrative review.

Genomic aspects in reproductive medicine

Homozygosity for Robertsonian Translocation (14q;15q) in a Newborn with a Familial History of Recurrent Abortion and Newborns Affected by Hepatosplenomegaly: A Case Report

Contact Info

Product

Resources

About