Pure trisomy 10p resulting from an extra stable telocentric chromosome (CROSBI ID 579299)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija
Podaci o odgovornosti
Lozić, Bernarda ; Čulić, Vida ; Lasan, Ružica ; Kaštelan, Tea ; Kuzmanić-Šamija Radenka ; Zemunik, Tatijana
engleski
Pure trisomy 10p resulting from an extra stable telocentric chromosome
This is a presentation of a child with very rare trisomy of the chromosome 10 short arm (10p), due to centric fission of maternal chromosome 10. Conventional cytogenetics and fluorescence in situ hybridization (FISH) showed a child’s karyotype to be 47, XX, +fis(10)(p10)mat whereas the healthy maternal one was 47, XX, 10, +fis(10)(p10), +fis(10) (q10). This is the first clinical report of a child with a pure trisomy 10 p as a result of consequence of familial unequal transmission of telocentric chromosome with a fully functional centromere. In cases reported so far the trisomy 10 p is accompanied with additional chromosome imbalances and that causes some of phenotypic characteristics. However, the clinical features described in the current case are caused by pure trisomy 10p and, thus, delineate the 10p trisomy syndrome phenotype such as growth retardation, development delay, craniofacial dysmorphism, foot abnormalities and heart defect.
trisomy 10p; chromosome; child; simple fision; phenotype
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
290-290.
2011.
objavljeno
Podaci o matičnoj publikaciji
Final program and abstracts
ISABS and Croatian Academy of Science and Arts
Zagreb: International Society for Applied Biological Sciences (ISABS)
Podaci o skupu
Fifth Croatian Human Genetics Conference, Satelite event
poster
20.06.2011-24.06.2011
Bol, Hrvatska