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Journal of Assisted Reproduction and Genetics
Erschienen in: Journal of Assisted Reproduction and Genetics 5/2017

24.02.2017 | Genetics

A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences

verfasst von: Natalia Trpchevska, Ivanka Dimova, Tatyana Arabadji, Tanya Milachich, Svetlana Angelova, Magdalena Dimitrova, Mariela Hristova-Savova, Petya Andreeva, Tania Timeva, Atanas Shterev

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 5/2017

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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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Metadaten
Titel
A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences
verfasst von
Natalia Trpchevska
Ivanka Dimova
Tatyana Arabadji
Tanya Milachich
Svetlana Angelova
Magdalena Dimitrova
Mariela Hristova-Savova
Petya Andreeva
Tania Timeva
Atanas Shterev
Publikationsdatum
24.02.2017
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 5/2017
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-017-0893-7

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