Author/Authors :
Karimi، Hamideh نويسنده , , Sabbaghian، Marjan نويسنده Department of Andrology, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran , , Haratian، Kaveh نويسنده , , Vaziri Nasab، Hamed نويسنده Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran , , Farrahi، Faramarz نويسنده , , Zari Moradi، Shabnam نويسنده Genetics Department, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran , , Tavakolzadeh، Tayebeh نويسنده Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran , , Beheshti، Zahra نويسنده Department of Nursing, Amol Faculty of Nursing and Midwifery, Mazandaran University of Medical Sciences, Sari, Iran , , Gourabi، Hamid نويسنده , , Mohseni Meybodi، Anahita نويسنده Genetics Department, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran ,
Abstract :
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.
