Naslov
Cytogenetic, FISH and molecular analysis of the stable dicetric X chromosome

Autori
Petković, Iskra ; Barišić, Ingeborg ; Bago, Ružica ; Sansović, Ivona

Izvornik
European journal of human genetics (1018-4813) 10 (2002), Suppl 1;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
dicentric; FISH; chromosome X

Sažetak
We present the results of cytogenetic and molecular study in a 5-years old girl with mild dysmorphism, growth retardatin and structural rearrangement of X chromsome. Both parents presented normal karyotype. Chromosome analyisis revealed one normal and one aberrant X chromosome. The rearranged X is a large submetacentric with one primary constriction and two blocks of C-staining. It is composed entirely of the X chromosome material. Two mosaic cell lines were detected by interphase FISH with X chrmosome specific centromeric probe. Three signals were observed in 84.5% and one signal in 15.5% of interphase cells. Replication analysis showed the normal X always early replicating while the dicentric was late replicating in all investigated cells. Molecular analysis using polymorphic DNA markers revealed that the dicentric is of paternal origin. Based on this study the karyotype of the patient is 45, X/46, psu idic(X)(q22.3). We suggest that dicentric is the result of postzygotic isolocal break in both chromatides of the paternal X chromosome, subsequent rejoining of broken ends, followed by inactivation of one centromere. These results point out to the importance of combined cytogenetic, FISH and molecular study in order to eludicate the mechanisms of formation of chromosomal abnormalities.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

POVEZANOST RADA