Pediatr. praxi. 2011;12(6):380-384
New diagnostic tools in mental retardation
- Oddělení lékařské genetiky, FN Ostrava
Mental retardation in children and adults is a serious medical and social problem. There are many causes of mental retardation, but
specific reason is found in only 25 % of cases. Recent progress in cytogenetic methods explained etiology of 10 % before unexplained
mental retardation due to detection of subtelomeric rearrangements, not visible by conventional cytogenetic analysis. The authors
refer about this modern diagnostic tools and present a case report of 4-years-old boy, who was investigated since infancy because of
clinical symptoms of severe mental retardation. Only at the age of 4 years, when multiprobe FISH method was introduced to specify
genetic diagnostic the authors were able to identify the subtelomeric deletion of chromozome 8 and telomeric trisomy of chromozome
12 – deletion in subtelomeric area 8p and trisomy in telomeric area 12p, which the child inherited from his healthy mother. Cytogenetic
examination of subtelomeric rearrangement of chromozomes provide only two hospitals in Czech Republic – our department in Ostrava
and Department of Biology and Medical Genetics University hospital Motol and 2nd Faculty of Medicine, Charles University Prague.
Keywords: mental retardation, cytogenetic methods, FISH, subtelomeric rearrangement of chromozomes
Published: December 10, 2011 Show citation
References
- Chetan GK, Manjunatha KR, Venkatesh HN, et al. Cytogenetic studies of idiopathic mental retardation: A report. Int J Hum Genet 2010; 10(1-3): 33-39.
Go to original source... - Baroncini A, Rivieri F, Capucci A, et al. FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype. Eur J Med Genet 2005; 48: 388-396. Go to original source...
Go to PubMed... - Meffort HC, Trask BJ. The complex structure dynamic evolution of human subtelomeres. Nat Rev Genet 2002; 3: 91-102. Go to original source... Go to PubMed...
- Walter S, Sandig K, Hinkel GK, et al. Subtelomer FISH in 50 children with mental retardation and minor anomalies, identified by check list, detects 10 rearrangements including de novo balanced translocation chromozomes 17p13.3 and 20q13.33. Am J Med Genet 2004; 128A: 364-373. Go to original source... Go to PubMed...
- Riethman HC, Xiang Z, Paul S, et al. Integration of telomer sequences with the draft human genom seqence. Nature 2001; 409: 948-951. Go to original source... Go to PubMed...
- Seemanová E, Novotná D, Vlčková Z. Subtelomerická přestavba příčinou mikrocefalie, faciální dysmorfie a mentální retardace. Čs Ped 2007; 62(1): 48-51.
- Riegel M, Baumer A, Jamar M, et al. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Human Genet 2001; 109: 286-294. Go to original source... Go to PubMed...
- Anderlid BM, Schoumans J, Anneren G, et al. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 2002; 107: 275-284. Go to original source... Go to PubMed...
- Koolen DA, Nillesen WM, Versteeg MHA, et al. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 2004; 41: 892-899. Go to original source... Go to PubMed...
- Sogaard M, Tümer Z, Hjalgrim H, et al. Subtelomeric study of 132 patients with mental retardation reveals 9 chromozomal anomalies and contributes to the delineation of submicroscopic deletion of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet 2005; 17: 6-21. Go to original source... Go to PubMed...
- Rooms L, Reyniers E, Wuyts W, et al. Multiplex ligation - dependent probe amplification to detect subtelomeric rearrangements in routine diagnostic. Clin Genet 2006; 69: 58-64. Go to original source... Go to PubMed...
- Xu J, Chen Z. Advances in molecular cytogenetics for the evaluation of mental retardation. Am J Med Genet 2003; 117C: 15-24. Go to original source... Go to PubMed...