title: A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.
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.
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria. ntrpcevska@gmail.com.|Laboratory of Cytogenetics and Molecular Genetics, National Specialized Hospital for Active Therapy of Hematological Diseases, Plovdivsko pole str 6, 1756, Sofia, Bulgaria. ntrpcevska@gmail.com.
authors.forename: Natalia
authors.identifier: http://orcid.org/0000-0002-6688-801X
authors.initials: N
authors.lastname: Trpchevska
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria.|Department of Medical Genetics, Medical University Sofia, Zdrave str 2, 1431, Sofia, Bulgaria.
authors.forename: Ivanka
authors.initials: I
authors.lastname: Dimova
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria.
authors.forename: Tatyana
authors.initials: T
authors.lastname: Arabadji
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria.
authors.forename: Tanya
authors.initials: T
authors.lastname: Milachich
authors.affiliation: Laboratory of Cytogenetics and Molecular Genetics, National Specialized Hospital for Active Therapy of Hematological Diseases, Plovdivsko pole str 6, 1756, Sofia, Bulgaria.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Angelova
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Dimitrova
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria.
authors.forename: Mariela
authors.initials: M
authors.lastname: Hristova-Savova
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria.
authors.forename: Petya
authors.initials: P
authors.lastname: Andreeva
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria.
authors.forename: Tania
authors.initials: T
authors.lastname: Timeva
authors.affiliation: SAGBAL "Dr Shterev", Hristo Blagoev Str. 25-31, 1330, Sofia, Bulgaria.
authors.forename: Atanas
authors.initials: A
authors.lastname: Shterev
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012098:Reproduction / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
keywords: CCRs; Chromothripsis; Complex translocations; Reproduction