Naslov
Pure trisomy 10p resulting from an extra stable telocentric chromosome

Autori
Lozić, Bernarda ; Čulić, Vida ; Lasan, Ružica ; Kaštelan, Tea ; Kuzmanić-Šamija Radenka ; Zemunik, Tatijana

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

Izvornik
Final program and abstracts / ISABS and Croatian Academy of Science and Arts - Zagreb : International Society for Applied Biological Sciences (ISABS), 2011, 290-290

Skup
Fifth Croatian Human Genetics Conference, Satelite event

Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 24.06.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
trisomy 10p; chromosome; child; simple fision; phenotype

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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