Jörg Weimer and Simone Metzke-Heidemann contributed equally to this work.
Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay*
Version of Record online: 6 FEB 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 140A, Issue 5, pages 488–495, 1 March 2006
How to Cite
Weimer, J., Metzke-Heidemann, S., Plendl, H., Caliebe, A., Grunewald, R., Õunap, K., Tammur, P., Jonat, W., Bartsch, O., Siebert, R. and Arnold, N. (2006), Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay. Am. J. Med. Genet., 140A: 488–495. doi: 10.1002/ajmg.a.31104
- Issue online: 13 FEB 2006
- Version of Record online: 6 FEB 2006
- Manuscript Accepted: 6 DEC 2005
- Manuscript Received: 18 APR 2005
- Klinefelter syndrome;
- chromosomal microdissection;
- deleted Y-chromosome;
- minute marker chromosome 8;
A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism for two marker chromosomes 48,XX,+mar1,+mar2/47,XX,+mar1/47,XX,+mar2/46,XX. Using chromosomal microdissection, locus-specific fluorescence in situ hybridization (FISH), and PCR with several Y-chromosome markers, the larger supernumerary marker chromosome (SMC) was characterized as a ring Y-chromosome. Detection of the SRY-region explained the male phenotype. The smaller second marker chromosome contained the pericentromeric region of chromosome 8. We suggest that the co-occurrence of a partial Y-chromosome and partial trisomy 8 explain the severe speech delay and the facial dysmorphic features. © 2006 Wiley-Liss, Inc.