PMID- 38025941
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231201
IS  - 2090-6544 (Print)
IS  - 2090-6552 (Electronic)
IS  - 2090-6552 (Linking)
VI  - 2023
DP  - 2023
TI  - A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive 
      Azoospermic Patient with Elevated FSH and LH Levels.
PG  - 6722623
LID - 10.1155/2023/6722623 [doi]
LID - 6722623
AB  - Structural chromosomal aberrations like translocations have been shown to cause 
      spermatogenic failure. We report a rare 46,X,t(Y;10)(q12;p14) balanced 
      translocation in an otherwise healthy non-obstructive azoospermic male with high 
      follicle-stimulating hormone (26.65 IU/L) and high luteinizing hormone 
      (13.58 IU/L). The patient was referred to us after clinical, hormonal, and 
      histopathological investigations to identify chromosomal abnormalities by 
      karyotyping and fluorescence in situ hybridization (FISH). Analysis of the 
      banding pattern by karyotyping followed by FISH confirmed reciprocal 
      translocation and identified the breakpoints at Yq heterochromatin (Yq12) and 
      10p14. Further molecular tests including AZF microdeletion assay were done, and 
      the results, which showed no mutations in the analyzed genes, were provided by 
      the referring doctor. Thus, our study points to the importance of conventional 
      cytogenetic techniques in the preliminary evaluation of a genetic abnormality in 
      cases of infertility and would help the patient make an informed decision before 
      pursuing assisted reproductive technology.
CI  - Copyright (c) 2023 Kousar Jahan Syeeda Khursheed et al.
FAU - Jahan Syeeda Khursheed, Kousar
AU  - Jahan Syeeda Khursheed K
AUID- ORCID: 0000-0002-1866-1996
AD  - Department of Molecular Medicine, Princess Al-Jawhara Centre for Molecular 
      Medicine, Genetics & Inherited Disorders, College of Medicine and Medical 
      Sciences, Arabian Gulf University, Manama, Bahrain.
FAU - Rahman Kaleemullah, Mohammed
AU  - Rahman Kaleemullah M
AUID- ORCID: 0009-0008-3789-8244
AD  - Department of Molecular Medicine, Princess Al-Jawhara Centre for Molecular 
      Medicine, Genetics & Inherited Disorders, College of Medicine and Medical 
      Sciences, Arabian Gulf University, Manama, Bahrain.
AD  - Department of Clinical Laboratory, Molecular Pathology Unit, Sultan Qaboos 
      Comprehensive Cancer Care and Research Centre, SQU Street, Al Khoud, Oman.
FAU - Joseph, Annu
AU  - Joseph A
AUID- ORCID: 0000-0003-2720-9659
AD  - Department of Molecular Medicine, Princess Al-Jawhara Centre for Molecular 
      Medicine, Genetics & Inherited Disorders, College of Medicine and Medical 
      Sciences, Arabian Gulf University, Manama, Bahrain.
FAU - Hasan Al Durazi, Mohammed
AU  - Hasan Al Durazi M
AUID- ORCID: 0009-0006-6489-4738
AD  - Consultant Genitourinary Surgeon, Al Khaleej Polyclinic, Road No. 2901, Block No. 
      329, Salmaniya, Manama, Bahrain.
FAU - Bakhiet, Moiz
AU  - Bakhiet M
AUID- ORCID: 0000-0002-5148-8849
AD  - Department of Molecular Medicine, Princess Al-Jawhara Centre for Molecular 
      Medicine, Genetics & Inherited Disorders, College of Medicine and Medical 
      Sciences, Arabian Gulf University, Manama, Bahrain.
LA  - eng
PT  - Case Reports
DEP - 20231113
PL  - United States
TA  - Case Rep Genet
JT  - Case reports in genetics
JID - 101583302
PMC - PMC10661856
COIS- The authors declare that there are no conflicts of interest regarding the 
      publication of this article.
EDAT- 2023/11/29 18:42
MHDA- 2023/11/29 18:43
PMCR- 2023/11/13
CRDT- 2023/11/29 16:40
PHST- 2023/04/13 00:00 [received]
PHST- 2023/10/25 00:00 [revised]
PHST- 2023/11/02 00:00 [accepted]
PHST- 2023/11/29 18:43 [medline]
PHST- 2023/11/29 18:42 [pubmed]
PHST- 2023/11/29 16:40 [entrez]
PHST- 2023/11/13 00:00 [pmc-release]
AID - 10.1155/2023/6722623 [doi]
PST - epublish
SO  - Case Rep Genet. 2023 Nov 13;2023:6722623. doi: 10.1155/2023/6722623. eCollection 
      2023.