Naslov
The first Croatian case of de novo trisomy 8 mosaicism: A five years follow-up

Autori
Čulić, Vida ; Lozić, Bernarda ; Čulić, Srđana ; Rešić, Biserka ; Lasan Trčić, Ružica ; Martinić, Roko

Izvornik
Annales de genetique (0003-3995) 46 (2003), 2-3;

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

Ključne riječi
De novo trisomy 8; Mosaicism

Sažetak
The trisomy 8 mosaicism is extremely variable in its phenotypic and cytogenetic-expression. The clinical features include mental retardation, dysmorphic face, skeletal anomalies (particularly vertebral), congenital heart defect and kidney malformations. The patients are usually not recognisable at the birth with major anomalies, but with dysmorphy of the face and deep longitudinal palmar and plantar creases. Mental retardation, infections, immunodeficiency and malignancies are described. Here we describe a first case of de novo trisomy 8 mosaicsm in Croatia. Correlation between clinical and laboratory findings are presented. The patient was found to be a mosaic for trisomy 8. His karyotype was: 47, XY, +8 (62%)/46, XY (38%).

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA