Ann Lab Med.  2013 Jul;33(4):297-299. 10.3343/alm.2013.33.4.297.

Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy

• Jang MA
• Jung CW
• Jung CW

• KMID: 1707240
• DOI: http://doi.org/10.3343/alm.2013.33.4.297

Abstract

No abstract available.

MeSH Terms

Bone Marrow Cells/pathology
Chromosomes, Human, X/*genetics
Hematologic Neoplasms/*etiology/genetics
Humans
Immunophenotyping
Karyotyping
Klinefelter Syndrome/*complications/*genetics
Male
Middle Aged
Mosaicism
Tomography, X-Ray Computed

Figure

• 

  Fig. 1 Karyotyping of peripheral blood cells using conventional G-banding revealed an extra X chromosome.

• 

  Fig. 2 FISH analyses using sex chromosome-specific probes to the α-satellite of the X centromere region (red signal) and satellite III of Yq12 (green signal) on a buccal smear specimen revealed 86% XXY and 11.5% XY. The remaining 2.5% of cells had an XX signal pattern, probably due to the artificial loss of 1 Y chromosome in the FISH procedure or true mosaicism with 3 cell lines.

Reference

1. Wikström AM, Dunkel L. Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab. 2011; 25:239–250. PMID: 21397196.

2. Yamamoto K, Hato A, Minagawa K, Yakushijin K, Urahama N, Sada A, et al. An extra X chromosome as a sole abnormality in relapse of an adult acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2004; 155:154–155. PMID: 15571803.

3. Tsutsumi Y, Tanaka J, Minami H, Musashi M, Fukushima A, Ehira N, et al. Acute biphenotypic leukemia and an acquired X chromosome. Cancer Genet Cytogenet. 2005; 157:94–95. PMID: 15676158.

4. Wan TS, Yip SF, Yeung YM, Chan LC, Ma SK. Fatal diffuse alveolar damage complicating acute myeloid leukemia with abnormal eosinophils and trisomy X. Ann Hematol. 2002; 81:167–169. PMID: 11904745.

5. Yamamoto K, Nagata K, Kida A, Hamaguchi H. Acquired gain of an X chromosome as the sole abnormality in the blast crisis of chronic neutrophilic leukemia. Cancer Genet Cytogenet. 2002; 134:84–87. PMID: 11996803.

6. Hur M, Cho HC, Lee KM, Park H, Lee SY, Kim KN, et al. Cleft palate in a rare case of Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism. Cleft Palate Craniofac J. 2009; 46:555–557. PMID: 19929089.

7. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter's syndrome. Lancet. 2004; 364:273–283. PMID: 15262106.

8. Kruse R, Guttenbach M, Schartmann B, Schubert R, van der Ven H, Schmid M, et al. Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter's syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection. Fertil Steril. 1998; 69:482–485. PMID: 9531882.

9. Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn. 1997; 17:363–368. PMID: 9160389.

10. Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl. 2003; 24:41–48. PMID: 12514081.

11. Zeidan A, Phatak P. Acquired biclonal chromosome X aberrations without autosomal chromosomal anomalies in acute myeloid leukemia. Cancer Genet Cytogenet. 2008; 181:125–130. PMID: 18295665.

12. Yhim HY, Kim HS, Sohn JY, Song MJ, Lee NR, Song EK, et al. JAK2 V617F-positive essential thrombocythemia in a patient with Klinefelter syndrome: a case report. Cancer Genet Cytogenet. 2010; 198:162–165. PMID: 20362232.

13. Kumar S, Menke DM, Dewald GW, Colon-Otero G. Agnogenic myeloid metaplasia associated with Klinefelter syndrome: a case report. Ann Hematol. 2002; 81:215–218. PMID: 11976824.

14. Okada H, Dobashi M, Yamazaki T, Fujisawa M, Arakawa S, Kamidono S. Fluorescence in situ hybridization analysis of sex-chromosome mosaicism in azoospermic men. J Androl. 2001; 22:970–972. PMID: 11700861.