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A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH.
Int J Fertil Steril. 2014 Jul; 8(2):221-4.IJ

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.

Authors+Show Affiliations

Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.Department of Andrology at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.Department of Pathobiology, Faculty of Medicine, Alborz University of Medical Science, Karaj, Iran.Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.Department of Andrology at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

25083188

Citation

Karimi, Hamideh, et al. "A Rare Case of Klinefelter Syndrome Patient With Quintuple Mosaic Karyotype, Diagnosed By GTG-Banding and FISH." International Journal of Fertility & Sterility, vol. 8, no. 2, 2014, pp. 221-4.
Karimi H, Sabbaghian M, Haratian K, et al. A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH. Int J Fertil Steril. 2014;8(2):221-4.
Karimi, H., Sabbaghian, M., Haratian, K., Vaziri Nasab, H., Farrahi, F., Moradi, S. Z., Tavakolzadeh, T., Beheshti, Z., Gourabi, H., & Meybodi, A. M. (2014). A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH. International Journal of Fertility & Sterility, 8(2), 221-4.
Karimi H, et al. A Rare Case of Klinefelter Syndrome Patient With Quintuple Mosaic Karyotype, Diagnosed By GTG-Banding and FISH. Int J Fertil Steril. 2014;8(2):221-4. PubMed PMID: 25083188.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH. AU - Karimi,Hamideh, AU - Sabbaghian,Marjan, AU - Haratian,Kaveh, AU - Vaziri Nasab,Hamed, AU - Farrahi,Faramarz, AU - Moradi,Shabnam Zari, AU - Tavakolzadeh,Tayebeh, AU - Beheshti,Zahra, AU - Gourabi,Hamid, AU - Meybodi,Anahita Mohseni, Y1 - 2014/07/08/ PY - 2012/10/02/received PY - 2013/07/06/accepted PY - 2014/8/2/entrez PY - 2014/8/2/pubmed PY - 2014/8/2/medline KW - Fluorescent in situ Hybridization KW - Karyotype KW - Klinefelter Syndrome KW - Mosaicism SP - 221 EP - 4 JF - International journal of fertility & sterility JO - Int J Fertil Steril VL - 8 IS - 2 N2 - 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. SN - 2008-076X UR - https://www.unboundmedicine.com/medline/citation/25083188/A_Rare_Case_of_Klinefelter_Syndrome_Patient_with_Quintuple_Mosaic_Karyotype_Diagnosed_by_GTG_Banding_and_FISH_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25083188/ DB - PRIME DP - Unbound Medicine ER -