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Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission
Joint Authors
Jiang, Yuting
Yu, Yang
Zhang, Han
Zhang, Hongguo
Sun, Meiling
Liu, Ruizhi
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-12-04
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Translocations involving X and Y chromosomes rarely occur in humans and may affect reproductive function.
We investigated an Xp:Yq unbalanced translocation with pseudoautosomal region (PAR) aberrations in a natural two-generation transmission.
We report the case of an azoospermic male and his fertile mother without any other abnormal clinical phenotypes, except for short stature.
Cytogenetic methods, including karyotyping and fluorescence in situ hybridization (FISH), revealed the translocation.
Chromosomal microarray comparative genomic hybridization (array-CGH) was used to investigate the regions of Xp partial deletion and Yq partial duplication.
Final chromosome karyotypes in the peripheral blood of the infertile male and his mother were 46,Y,der(X)t(X;Y)(p22.33;q11.22) and 46,X,der(X)t(X;Y)(p22.33;q11.22), respectively.
Short-stature-homeobox gene deletion was responsible for the short stature in both subjects.
PAR aberrations and AZFc duplication may be a direct genetic risk factor for spermatogenesis.
This report further supports the use of routine karyotype analysis, FISH-based technology, and array-CGH analysis to identify derivative chromosomes in a complex rearrangement.
American Psychological Association (APA)
Jiang, Yuting& Yu, Yang& Zhang, Han& Zhang, Hongguo& Sun, Meiling& Liu, Ruizhi. 2020. Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission. BioMed Research International،Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1134349
Modern Language Association (MLA)
Jiang, Yuting…[et al.]. Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission. BioMed Research International No. 2020 (2020), pp.1-8.
https://search.emarefa.net/detail/BIM-1134349
American Medical Association (AMA)
Jiang, Yuting& Yu, Yang& Zhang, Han& Zhang, Hongguo& Sun, Meiling& Liu, Ruizhi. Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1134349
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1134349