Subtelomerne kromosomske preureditve - eden od vzrokov za idiopatsko mentalno retardacijo
Subtelomeric chromosal abberations - one of the reasons for idiopathic mental retardation

slovenian

2003

volume 72, issue 6

Chromosome abberations   genetics   In situ hybridization, fluorescence   Mental retardation

Slovensko zdravniško društvo
(Obvezni izvod spletne publikacije)

Background. Cryptic subtelomeric chromosome anomalies have been recongnised as a significant cause of idiopathic mental retardation (IMR) and/or dysmorphology. This study presents an innovative simmultane fluorescencein situ hybridisation (FISH) technique for detection of subtelomeric rearrangements that was introduced to the laboratory. It was found out that this method is a very useful diagnostic tool with application in the field of idiopathic mental retardation, for detection of congenital abnormalities and in resolving complex karyotypes. This study was done on 56 mentally retarded and/or dysmorphic children from the north-eastern part of Slovenia. Methods. All patients were karyotyped using 5 ml peripheral blood samples. FISH testingusing Cytocell Multiprobe T-System and some locus specific DNA-probes was performed for detection of subtelomeric chromosomal rearrangements. Results. Subtelomeric alterations were detected in 5.4% patients. Clinical significant "de novo" subtelomeric aberrations were detected in 3.6% of patients while deletion of the 2q subtelomeric region del(2)(qtel) appeared to be a common variant and inheritive in both of our cases. Two subtelomeric aberrations such as del(X)(ptel) and monosomy of (13)(qtel), and partial trisomy of chromosome 10 in (10)(qtel) region were found among the patients during this screening. Conclusions. Furthermore, fluorescence in situ hybridisation (FISH) technique using the multiprobe subtelomeric DNA system proved to be a useful diagnostic tool for screening the patients with or without dysmorphic feature and normal karyotype.

10.04.2014