Dr. Theologia Sarafidou's present address is Department of Biochemistry and Biotechnology, University of Thessaly, Greece.
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes†
Article first published online: 30 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2841–2854, November 2011
How to Cite
Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Z., Ravn, K., Pasparaki, A., Sarafidou, T., Kontos, H., Kokotas, H., Karadima, G., Grigoriadou, M., Pandelia, E., Theodorou, V., Moschonas, N. K. and Petersen, M. B. (2011), Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes. Am. J. Med. Genet., 155: 2841–2854. doi: 10.1002/ajmg.a.34259
How to Cite this Article: Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB. 2011. Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes. Am J Med Genet Part A 155: 2841–2854.
- Issue published online: 20 OCT 2011
- Article first published online: 30 SEP 2011
- Manuscript Accepted: 17 JUL 2011
- Manuscript Received: 8 FEB 2011
- non-acrocentric satellited chromosomes;
- array CGH;
- behavioral anomalies;
- phychomotor delay;
- chromosome 10;
We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4 Mb deletion on the long arm of chromosome 10, approximately 145 kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64 Mb 10q26.11–q26.2 duplication, a 1.3 Mb region with no copy number change, followed by a 5.62 Mb 10q26.2–q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes. © 2011 Wiley Periodicals, Inc.