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Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report.

Abstract

A 35-year-old male was investigated for primary infertility. Clinical examination showed an intelligent man with normal facial appearance and moustache and small firm testes. Testicular histopathology revealed marked atrophy of the testes with no spermatogenesis and absence of germ cells. Hormonal profile showed elevated levels of FSH,LH and low levels of testosterone. Chromosome analysis from whole blood culture showed cells with 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY mosaicism. The predominant cell line was 47,XXY (87.86%). 46,XY/47,XXY mosaicism is not uncommon. However, mosaicism of multiple sex chromosome aneuploidy is rarely observed. This is the first report of mosaicism in Klinefelter's syndrome variant with five cell lines.

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Authors

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Source

Annales de genetique 29:2 1986 pg 119-21

MeSH

Adult
Cell Line
Chromosome Banding
Humans
Klinefelter Syndrome
Male
Mosaicism
Oligospermia

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3490207

Citation

Al-Awadi, S A., et al. "Klinefelter's Syndrome, Mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a Case Report." Annales De Genetique, vol. 29, no. 2, 1986, pp. 119-21.
Al-Awadi SA, Teebi AS, Krishna Murthy DS, et al. Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. Ann Genet. 1986;29(2):119-21.
Al-Awadi, S. A., Teebi, A. S., Krishna Murthy, D. S., Othman, G., & Sundareshan, T. S. (1986). Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. Annales De Genetique, 29(2), pp. 119-21.
Al-Awadi SA, et al. Klinefelter's Syndrome, Mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a Case Report. Ann Genet. 1986;29(2):119-21. PubMed PMID: 3490207.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. AU - Al-Awadi,S A, AU - Teebi,A S, AU - Krishna Murthy,D S, AU - Othman,G, AU - Sundareshan,T S, PY - 1986/1/1/pubmed PY - 1986/1/1/medline PY - 1986/1/1/entrez SP - 119 EP - 21 JF - Annales de genetique JO - Ann. Genet. VL - 29 IS - 2 N2 - A 35-year-old male was investigated for primary infertility. Clinical examination showed an intelligent man with normal facial appearance and moustache and small firm testes. Testicular histopathology revealed marked atrophy of the testes with no spermatogenesis and absence of germ cells. Hormonal profile showed elevated levels of FSH,LH and low levels of testosterone. Chromosome analysis from whole blood culture showed cells with 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY mosaicism. The predominant cell line was 47,XXY (87.86%). 46,XY/47,XXY mosaicism is not uncommon. However, mosaicism of multiple sex chromosome aneuploidy is rarely observed. This is the first report of mosaicism in Klinefelter's syndrome variant with five cell lines. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/3490207/Klinefelter's_syndrome_mosaic_46XX/46XY/47XXY/48XXXY/48XXYY:_a_case_report_ L2 - http://www.diseaseinfosearch.org/result/41 DB - PRIME DP - Unbound Medicine ER -