ArticleJournal of assisted reproduction and genetics2017
A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.
Article in Journal of assisted reproduction and genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- CDK1 mediates the metabolic regulation of DNA double-strand break repair in metaphase II oocytes.BMC biology · 2025Article
- Article
- Identification of Balanced and Unbalanced Complex Chromosomal Rearrangement Involving Chromosomes 1, 11, and 15.Cureus · 2021Article
- Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers-Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR): Molecular Cytogenetic Analysis.International journal of molecular sciences · 2020Article
- The influence of balanced complex chromosomal rearrangements on preimplantation embryonic development potential and molecular karyotype.BMC genomics · 2020Article
- [Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Article
- A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy.Journal of assisted reproduction and genetics · 2018Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient's karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband's mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.
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