Naslov
Molecular cytogenetic findings in children with developmental delay

Autori
Petković, Iskra ; Barišić, Ingeborg

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
The fourth European-American school in forensic genetics and Mayo Clinic course in advanced molecular and cellular medicine - final program and abstracts / X - Dubrovnik, 2005

Skup
The fourth European-American school in forensic genetics and Mayo Clinic course in advanced molecular and cellular medicine

Mjesto i datum
Dubrovnik, Hrvatska, 05.09.2005. - 09.09.2005

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
cytogenetics; developmental delay

Sažetak
Chromosomal abnormalities are the most common cause of mental retardation and present in 4-28% of patients. Standard cytogenetic investigation using high resolution banding techniques cannot detect genomic abnormalities smaller than 5-10Mb. Rearrangments involving smaller interstitial and subtelomeric chromosomal regions may be detected by molecular cytogenetic methods. In this report we present the results of chromosome analysis in 170 children referred to cytogenetic laboratory for developmental delay, dysmorphism and malformations. Chromosome analysis was performed on slides obtained from synchronized peripheral blood lymophocyte culture. All samples were studied by GTG-, RBG- and CBG-banding methods, and fluorescence in situ hybridization (FISH) method with appropriate DNA probe. Structural chromosome aberrations were detected in 12 (7.0%9 out of 170 children by classical cytogenetic banding methods. Interstitial microdeletions were identified by two-colour FISH in 14 (11.0%) out of 127 children with phenotype suggestive of microdeletion syndromes. Subtle rearrangements of chromosome subtelomeric regions were detected by multi-probe FISH screening method in 2 (6.45%) out of 31 patient, or in three (9.1%) out of 33 persons including parents. The results of this study indicate the following: 1. Submicroscopic chromosome abnormalities are a significant cause of developmental delay. 2. FISH with miltiple subtelomeric probes is useful test for detecting cryptic rearrangements and establishing diagnosis in patients with unexplained develpmental disorder. 3. The evaluation of patients with mental retardation and dysmorphism requires stepwise testing including high resolution chromosome identification and FISH analysis to exclude a particular microdeletion syndrome before screening requires the confirmation with single FISH probe and cytogenetic investigations of both parents. 5.FISH analysis is useful in precise identification, understanding the mechanism of origin of structural chromosome rearrangements and assessment of chromosomal breakpoint positions.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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