PMID- 35340802
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220329
IS  - 1735-8949 (Print)
IS  - 1735-9392 (Electronic)
IS  - 1735-9392 (Linking)
VI  - 15
IP  - 4
DP  - 2021 Dec
TI  - An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype.
PG  - 271-274
LID - 10.18502/jfrh.v15i4.7896 [doi]
AB  - Objective: 45, X is a very rare condition that usually results from Y/autosomal 
      translocations or insertions. Here we present an infertile azoospermic man who 
      had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene 
      region. Case report : A 35-year-old infertile azoospermic man with a typical male 
      appearance came for infertility genetic counseling. He was infertile for more 
      than ten years and had short height. High-resolution of metaphase chromosomes of 
      50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in 
      situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done 
      for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X 
      t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome 
      revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was 
      revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 
      15. Conclusion: This study shows that despite the lack of a complete Y chromosome 
      in this person, the occurrence of secondary male traits is a result of the short 
      arm translocation of the Y chromosome, which contains the (ex-determining region 
      Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion 
      containing the AZF gene region.
CI  - Copyright (c) 2021 Tehran University of Medical Sciences. Published by Tehran 
      University of Medical Sciences.
FAU - Abiri, Maryam
AU  - Abiri M
AD  - Department of Medical Genetics, Faculty of Medicine, Iran University of Medical 
      Sciences, Tehran, Iran.
AD  - Shahid Akbarabadi Clinical Research Development Unit, Iran University of Medical 
      Sciences, Tehran, Iran.
FAU - Hassanlou, Maryam
AU  - Hassanlou M
AD  - Faculty of Biology, Women's University of Semnan (Farzanegan), Semnan, Iran.
FAU - Narimani, Nima
AU  - Narimani N
AD  - Department of Urology, Hasheminejad Kidney Center, Iran University of Medical 
      Sciences, Tehran, Iran.
FAU - Zamani, Marzieh
AU  - Zamani M
AD  - Shahid Akbarabadi Clinical Research Development Unit, Iran University of Medical 
      Sciences, Tehran, Iran.
FAU - Moeini, Zahra
AU  - Moeini Z
AD  - Shahid Akbarabadi Clinical Research Development Unit, Iran University of Medical 
      Sciences, Tehran, Iran.
LA  - eng
PT  - Case Reports
PL  - Iran
TA  - J Family Reprod Health
JT  - Journal of family & reproductive health
JID - 101496684
PMC - PMC8897818
OTO - NOTNLM
OT  - Aneuploidy
OT  - Azoospermia
OT  - Fluorescence In Situ Hybridization
OT  - Genetic Translocation
OT  - Sex-Determining Region Y Protein
EDAT- 2022/03/29 06:00
MHDA- 2022/03/29 06:01
PMCR- 2021/12/01
CRDT- 2022/03/28 05:16
PHST- 2022/03/28 05:16 [entrez]
PHST- 2022/03/29 06:00 [pubmed]
PHST- 2022/03/29 06:01 [medline]
PHST- 2021/12/01 00:00 [pmc-release]
AID - JFRH-15-271 [pii]
AID - 10.18502/jfrh.v15i4.7896 [doi]
PST - ppublish
SO  - J Family Reprod Health. 2021 Dec;15(4):271-274. doi: 10.18502/jfrh.v15i4.7896.