SUBTELOMERIC CHROMOSOMAL ABBERATIONS – ONE OF THE REASONS FOR IDIOPATHIC MENTAL RETARDATION

Autor: Alenka Erjavec-Škerget, Boris Zagradišnik, Nadja Kokalj-Vokač
Jazyk: English<br />Slovenian
Rok vydání: 2003
Předmět:
Zdroj: Zdravniški Vestnik, Vol 72, Iss 6 (2003)
Druh dokumentu: article
ISSN: 1318-0347
1581-0224
Popis: Background. Cryptic subtelomeric chromosome anomalies have been recognised as a significant cause of idiopathic mental retardation (IMR) and/or dysmorphology. This study presents an innovative simmultane fluorescence in 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 northeastern part of Slovenia.Methods. All patients were karyotyped using 5 ml peripheral blood samples. FISH testing using the Cytocell Multiprobe TSystem 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.
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