ArticleInternational journal of molecular and cellular medicine2017
The Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report.
Article in International journal of molecular and cellular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 9 citations in OpenAlex.
- The influence of balanced complex chromosomal rearrangements on preimplantation embryonic development potential and molecular karyotype.BMC genomics · 2020Article
- Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report.Molecular cytogenetics · 2020Article
- Inter-chromosomal Effect in a Robertsonian Translocation (13;14) Carrier with a Child Affected by Down Syndrome: A Case Report.Journal of reproduction & infertilityArticle
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Robertsonian translocations (RBTs) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangements among the carrier couples with the history of spontaneous abortions. However, double Robertsonian translocations (DRBTs), in which two balanced RBTs occur simultaneously, are extremely rare conditions. A 9-year-old mentally normal girl with multiple skeletal disorders was found to carry a balanced 13/14 RBT (45, XX, t(13q; l4q)). Three generations of her family, including her parents and her maternal grandparents were investigated for cytogenetic analysis. All of them were phenotypically normal. Her mother appeared in a peculiar karyotype of 44, XX, t (13q; 14q) ×2, while her father revealed a normal karyotype 46, XY. Chromosomal constitution of her grandparents showed that both of them carried this balanced reciprocal translocation (45, XY t (13q; 14q) as well as 45, XX, t (13q;14q)). Cytogenetic evaluations on the basis G-banding technique were performed for participants. Except the 9- year-old girl, all RBT carriers in this family appeared phenotypically normal, her skeletal disorders might not be due to chromosomal rearrangement. Meanwhile, all offsprings of 44, XX woman are obligatory carriers of this translocation, and should be candidates for prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD), for their future pregnancies.
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