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

Autori
Lozić, Bernarda ; Culić, Vida ; Lasan, Ružica ; Tomasović, Maja ; Kuzmanić Šamija, Radenka ; Zemunik, Tatijana

Izvornik
American journal of medical genetics. Part A (1552-4825) 158A (2012), 7; 1778-1781

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pismo, znanstveni

Ključne riječi
child; chromosome; phenotype; fission; trisomy 10p

Sažetak
This is a presentation of a child with a 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 the 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 10p as a result of the consequence of familial unequal transmission of telocentric chromosome with a fully functional centromere. In cases reported so far the trisomy 10p is accompanied with additional chromosome imbalances and that causes some of the 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

POVEZANOST RADA