PMID- 24502892
OWN - NLM
STAT- MEDLINE
DCOM- 20140602
LR  - 20220408
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 101
IP  - 4
DP  - 2014 Apr
TI  - Delineating the association between isodicentric chromosome Y and infertility: a 
      retrospective study.
PG  - 1091-6
LID - S0015-0282(13)03484-5 [pii]
LID - 10.1016/j.fertnstert.2013.12.048 [doi]
AB  - OBJECTIVE: To report on 14 infertile patients who had a de novo form of the same 
      isodicentric (idic)(Yq) karyotype with variable degrees of mosaicism. DESIGN: 
      Retrospective study and review of the literature. SETTING: Medical genetics 
      laboratory in a research institute for reproductive biomedicine. PATIENT(S): 
      Fourteen infertile patients, including 13 male patients and 1 female patient who 
      had infertility with the same idic(Y) karyotype. INTERVENTION(S): Conventional 
      cytogenetic methods, fluorescence in situ hybridization (FISH) on seminal germ 
      cells and blood, and polymerase chain reaction (PCR)-based molecular approaches. 
      MAIN OUTCOME MEASURE(S): Karyotype, FISH, and PCR results. RESULT(S): Cytogenetic 
      results revealed abnormal Y chromosome: 45,X/46,X,idic(Y)(q11.22). The FISH 
      technique on blood lymphocytes confirmed a rearranged Y chromosome, with two 
      centromeres and two SRY signals, and marker chromosome with various levels of 
      mosaicism. Moreover, aneuploidy of sex chromosomes was also detected in haploid 
      seminal germ cells. Multiplex PCR analysis of blood samples demonstrated 
      microdeletion in AZFb and AZFc loci. CONCLUSION(S): Because of the resemblance 
      between inversion of chromosome Y and idics(Y), use of confirmatory techniques 
      (e.g., FISH or PCR-based methods) could help prevent medical errors in healthcare 
      systems and precisely delineate chromosomal aberrations in infertile patients 
      when clinical data fail to clarify the cause of infertility.
CI  - Copyright (c) 2014 American Society for Reproductive Medicine. Published by 
      Elsevier Inc. All rights reserved.
FAU - Kalantari, Hamid
AU  - Kalantari H
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, The Academic Center for Education, Culture and 
      Research (ACECR), Tehran, Iran.
FAU - Asia, Saba
AU  - Asia S
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, The Academic Center for Education, Culture and 
      Research (ACECR), Tehran, Iran.
FAU - Totonchi, Mehdi
AU  - Totonchi M
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, The Academic Center for Education, Culture and 
      Research (ACECR), Tehran, Iran.
FAU - Vazirinasab, Hamed
AU  - Vazirinasab H
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, The Academic Center for Education, Culture and 
      Research (ACECR), Tehran, Iran.
FAU - Mansouri, Zahra
AU  - Mansouri Z
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, The Academic Center for Education, Culture and 
      Research (ACECR), Tehran, Iran.
FAU - Zarei Moradi, Shabnam
AU  - Zarei Moradi S
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, The Academic Center for Education, Culture and 
      Research (ACECR), Tehran, Iran.
FAU - Haratian, Kaveh
AU  - Haratian K
AD  - Department of Pathobiology, Faculty of Medicine, Alborz University of Medical 
      Science, Karaj, Iran.
FAU - Gourabi, Hamid
AU  - Gourabi H
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, The Academic Center for Education, Culture and 
      Research (ACECR), Tehran, Iran.
FAU - Mohseni Meybodi, Anahita
AU  - Mohseni Meybodi A
AD  - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute 
      for Reproductive Biomedicine, The Academic Center for Education, Culture and 
      Research (ACECR), Tehran, Iran. Electronic address: anahitamohseni@gmail.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20140204
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
RN  - Y Chromosome Infertility
SB  - IM
MH  - Adult
MH  - Azoospermia/*genetics
MH  - Female
MH  - *Genetic Association Studies
MH  - Genetic Predisposition to Disease/*genetics
MH  - Humans
MH  - Infertility, Female/*genetics
MH  - Male
MH  - Retrospective Studies
MH  - *Sex Chromosome Aberrations
OTO - NOTNLM
OT  - Mosaicism
OT  - azoospermia
OT  - fluorescence in situ hybridization (FISH)
OT  - isodicentric Yq chromosome
OT  - multiplex PCR
OT  - semen germ cells
EDAT- 2014/02/08 06:00
MHDA- 2014/06/03 06:00
CRDT- 2014/02/08 06:00
PHST- 2013/08/22 00:00 [received]
PHST- 2013/12/28 00:00 [revised]
PHST- 2013/12/30 00:00 [accepted]
PHST- 2014/02/08 06:00 [entrez]
PHST- 2014/02/08 06:00 [pubmed]
PHST- 2014/06/03 06:00 [medline]
AID - S0015-0282(13)03484-5 [pii]
AID - 10.1016/j.fertnstert.2013.12.048 [doi]
PST - ppublish
SO  - Fertil Steril. 2014 Apr;101(4):1091-6. doi: 10.1016/j.fertnstert.2013.12.048. 
      Epub 2014 Feb 4.