Naslov
Unusual mosaicism due to non-homologous postzygotic recombination involving chromosomes 6 and 10 in the mother, and 46,Xder(X)t(X;6) in her daughter

Autori
Petković, Iskra ; Barišić, Ingeborg

Izvornik
European Journal of Human Genetics (1018-4813) 9 (2001), 1;

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

Ključne riječi
chromosome 6; chromosome 10; chromosome X; mosaicism; jumping translocations

Sažetak
It is well known that unbalanced translocations are mostly familial, and cytogenetic analysis of parents usually reveal the reciprocal exchange of chromosome segments identified in a given unbalanced rearrangement. In this report we present an unexpected cytogenetic finding of chromosome rearrangement transmission. Our patient is 23-months old girl with short stature, failure to thrive, moderate mental retardation, deficiency of IgG, mild facial dysmorphism, mo malformation or abnormalities of visceral organs. Cytogenetic analysis of peripheral blood and fibroblast revealed a karyotype 46,Xder(X)t(X;6)(q22;p11)Cytogenetic investigation of the father revealed normal karyotype (46,XY), while the mother presented 46,XX/46,XX,der(10)t(p11;p11) in the peripheral blood, and 46,XX in the fibroblast culture. We suggest that unusual mosaicism in the mother is due to unstable 6p11 region leading to the jumping nonhomologous postzygotic recombination involving chromosome 10 (observed) and x (not observed) at S/G2 phase of the cell cycle. The mother transmitted to her daughter der(X)t(X;6) and normal chromosome 6.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA