Naslov
Chromosome inactivation pattern study in an unbalanced X;6 translocation

Autori
Petković, Iskra ; Barišić, Ingeborg

Izvornik
European journal of human genetics (1018-4813) 1 (2000), 8;

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

Ključne riječi
chromosome X; chromosome 6; inactivation

Sažetak
Unbalanced translocations involving long arm of the chromosome X and the short arm of chromosome 6 are rare, and only one case has been described so far. In this report we present the result of cytogenetic analyisis in the second case of this unusual aberration. The aim of the study was to determine the X chromosome inactivation pattern in relation to the observed phenotype. Our patient is 23 month-old girl with short stature, failure to thrive, moderate mental retardation, deficiency of IgG, mild facial dysmorphism, and no malformation or abnormalities of visceral organs. Cytogenetic analysis was performed on G-banded slides obtained from peripheral blood lymphocyte cultures. The RBG-method was used to investigate the replication pattern of normal and derived X chromosome. Cytogenetic analysis revealed unbalanced translocation (X;6)(q22;p11), with trisomy of the short arm of chromosome 6 (p11-pter) and monosomy for the distal segment of the long arm of chromosome X (q22-qter). The derived X was late replicating in all investigated cells, and moderate degree of inactivation spreading into translocated autosome was observed. The results of this investigation revealed the discordance between the degree of genetic imbalance, clinical manifestations, and inactivation pattern.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA