PMID- 25083188
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140801
LR  - 20211021
IS  - 2008-076X (Print)
IS  - 2008-0778 (Electronic)
IS  - 2008-0778 (Linking)
VI  - 8
IP  - 2
DP  - 2014 Jul
TI  - A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, 
      Diagnosed by GTG-Banding and FISH.
PG  - 221-4
AB  - Klinefelter syndrome (KS) is the most common sex chromosomal disorder in men. 
      Most of these patients show the 47,XXY karyotype, whereas approximately 15% of 
      them are mosaics with variable phenotype. A 39-year-old male investigated for 
      primary infertility, was clinically normal with small firm testes and elevated 
      levels of FSH, LH and low level of testosterone. Total azoospermia was confirmed 
      on semen analysis. Testicular histopathology revealed no spermatogenesis and 
      absence of germ cells. Karyotype from whole blood culture showed cells with 
      47,XXY/46,XX/ 45,X/48,XXXY/ 46,XY mosaicism. The predominant cell line was 47,XXY 
      (83.67%). This was confirmed by fluorescence in situ hybridization (FISH). Also 
      the presence of a small population of cells with the 48,XXXY and 45,X karyotypes 
      was detected by FISH. This case illustrates the utility of FISH as an adjunct to 
      conventional cytogenetics in assess the chromosome copy number in each cell line 
      of a mosaic.
FAU - Karimi, Hamideh
AU  - Karimi H
AD  - Department of Genetics at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Sabbaghian, Marjan
AU  - Sabbaghian M
AD  - Department of Andrology at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Haratian, Kaveh
AU  - Haratian K
AD  - Department of Pathobiology, Faculty of Medicine, Alborz University of Medical 
      Science, Karaj, Iran.
FAU - Vaziri Nasab, Hamed
AU  - Vaziri Nasab H
AD  - Department of Genetics at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Farrahi, Faramarz
AU  - Farrahi F
AD  - Department of Andrology at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Moradi, Shabnam Zari
AU  - Moradi SZ
AD  - Department of Genetics at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Tavakolzadeh, Tayebeh
AU  - Tavakolzadeh T
AD  - Department of Genetics at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Beheshti, Zahra
AU  - Beheshti Z
AD  - Department of Genetics at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Gourabi, Hamid
AU  - Gourabi H
AD  - Department of Genetics at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
FAU - Meybodi, Anahita Mohseni
AU  - Meybodi AM
AD  - Department of Genetics at Reproductive Biomedicine Research Center, Royan 
      Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
LA  - eng
PT  - Journal Article
DEP - 20140708
PL  - Iran
TA  - Int J Fertil Steril
JT  - International journal of fertility & sterility
JID - 101487941
PMC - PMC4107697
OTO - NOTNLM
OT  - Fluorescent in situ Hybridization
OT  - Karyotype
OT  - Klinefelter Syndrome
OT  - Mosaicism
EDAT- 2014/08/02 06:00
MHDA- 2014/08/02 06:01
PMCR- 2014/07/01
CRDT- 2014/08/02 06:00
PHST- 2012/10/02 00:00 [received]
PHST- 2013/07/06 00:00 [accepted]
PHST- 2014/08/02 06:00 [entrez]
PHST- 2014/08/02 06:00 [pubmed]
PHST- 2014/08/02 06:01 [medline]
PHST- 2014/07/01 00:00 [pmc-release]
PST - ppublish
SO  - Int J Fertil Steril. 2014 Jul;8(2):221-4. Epub 2014 Jul 8.