PMID- 29201526
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 2149-3235 (Print)
IS  - 2149-3057 (Electronic)
IS  - 2149-3235 (Linking)
VI  - 43
IP  - 4
DP  - 2017 Dec
TI  - Male infertility associated with de novo pericentric inversion of chromosome 1.
PG  - 560-562
LID - 10.5152/tud.2017.79346 [doi]
AB  - Inversion occurs after two breaks in a chromosome have happened and the segment 
      rotates 180 degrees  before reinserting. Inversion carriers have produced abnormal 
      gametes if there is an odd number crossing- over between the inverted and the 
      normal homologous chromosomes causing a duplication or deletion. Reproductive 
      risks such as infertility, abortion, stillbirth and birth of malformed child 
      would be expected in that case. A 54-year- old male patient was consulted to our 
      clinic for primary infertility. The routine chromosome study were applied using 
      peripheral blood lymphocyte cultures and analyzed by giemsa-trypsin-giemsa (GTG) 
      banding, and centromer banding (C-banding) stains. Y chromosome microdeletions in 
      the azoospermia factor (AZF) regions were analyzed with polymerase chain 
      reaction. Additional test such as fluorescence in situ hybridization (FISH) was 
      used to detect the sex-determining region of the Y chromosome (SRY). Semen 
      analysis showed azoospermia. A large pericentric inversion of chromosome 1 46,XY, 
      inv(1) (p22q32) was found in routine chromosome analysis. No microdeletions were 
      seen in AZF regions. In our patient the presence of SRY region was observed by 
      using FISH technique with SRY-specific probe. Men who have pericentric inversion 
      of chromosome 1, appear to be at risk for infertility brought about by 
      spermatogenic breakdown. The etiopathogenic relationship between azoospermia and 
      pericentric inversion of chromosome 1 is discussed.
FAU - Balasar, Ozgur
AU  - Balasar O
AD  - Department of Medical Genetics, Dr. Faruk Sukan Maternity and Pediatric Hospital, 
      Konya, Turkey.
FAU - Zamani, Ayse Gul
AU  - Zamani AG
AD  - Department of Medical Genetics, Necmettin Erbakan University, Meram School of 
      Medicine, Konya, Turkey.
FAU - Balasar, Mehmet
AU  - Balasar M
AD  - Department of Urology, Necmettin Erbakan University, Meram School of Medicine, 
      Konya, Turkey.
FAU - Acar, Hasan
AU  - Acar H
AD  - Department of Medical Genetics, Selcuk University School of Medicine, Konya, 
      Turkey.
LA  - eng
PT  - Journal Article
DEP - 20171201
PL  - Turkey
TA  - Turk J Urol
JT  - Turkish journal of urology
JID - 101643563
PMC - PMC5687226
OTO - NOTNLM
OT  - Azoospermia
OT  - chromosome 1
OT  - male infertility
OT  - pericentric inversion
COIS- Conflict of Interest: No conflict of interest was declared by the authors.
EDAT- 2017/12/05 06:00
MHDA- 2017/12/05 06:01
PMCR- 2017/12/01
CRDT- 2017/12/05 06:00
PHST- 2016/03/10 00:00 [received]
PHST- 2016/09/17 00:00 [accepted]
PHST- 2017/12/05 06:00 [entrez]
PHST- 2017/12/05 06:00 [pubmed]
PHST- 2017/12/05 06:01 [medline]
PHST- 2017/12/01 00:00 [pmc-release]
AID - tju-43-4-560 [pii]
AID - 10.5152/tud.2017.79346 [doi]
PST - ppublish
SO  - Turk J Urol. 2017 Dec;43(4):560-562. doi: 10.5152/tud.2017.79346. Epub 2017 Dec 
      1.