Robertsonian translocations--reproductive risks and indications for preimplantation genetic diagnosis

Abstract

For fertile couples, careful risk assessment and genetic counselling should precede consideration for PGD. Where translocation couples need assisted conception for subfertility, PGD is a valuable screen for imbalance, even when the risk of viable chromosome abnormality is low.

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

“…They have been found in approximately 1 % of infertile men and commonly occur in azoospermic men compared to oligozoospermic males [16,30]. Robertsonian translocations could potentially affect male fertility and pregnancy by altering the gene expression pattern of the spermatozoa at different stages [31,32]. This is very evident in oligozoospermic (1.6 %) and azoospermic (0.09 %) men [30].…”

Preimplantation genetic diagnosis for couples with a Robertsonian translocation: practical information for genetic counseling

“…Previous studies of the chromosomal patterns of embryos in RT carriers subjected to PGD have shown mixed results. Some have suggested that RT prompts abnormal chromosome segregation, resulting in high levels of mosaicism and chaotic embryos [7][8][9], whereas others have reported that RT does not cause chromosomal malsegregation during cleavage and that PGD is a useful alternative to prenatal diagnosis [10].…”

Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences

“…Although, carrier of [rob t (13;14)] are phenotypically normal, there is greater chance of infertility, aneuploid gametes formation, spontaneous abortions, progenies with multiple congenital anomalies, mental retardation and uniparental disomy related complication [2,12]. Recently, a study from Chinese population on 872 cases of Robertsonian translocations revealed 93% of the balanced translocations were having problem of infertility, miscarriage, or offspring(s) with known chromosomal abnormalities [13].…”

“…Its incidence in population has been reported to be 1.23 in 1000 live births [1]. Phenotypically, carriers of [rob t (13;14)] are normal but they are at higher risk for producing unbalanced gametes resulting in to monosomic or trisomic fetuses [2]. They are often met with fertility problems, unfavorable pregnancy outcome like miscarriages, stillbirths, offspring with mental retardation, uniparental disomy (UPD) or UPD-related imprinting disorders [3][4][5][6].…”