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The first Croatian case of de novo trisomy 8 mosaicism: A five years follow-up (CROSBI ID 739762)

Prilog sa skupa u časopisu | izvorni znanstveni rad

Čulić, Vida ; Lozić, Bernarda ; Čulić, Srđana ; Rešić, Biserka ; Lasan Trčić, Ružica ; Martinić, Roko The first Croatian case of de novo trisomy 8 mosaicism: A five years follow-up // Annales de genetique. 2003. str. 245-x

Podaci o odgovornosti

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

engleski

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

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%).

De novo trisomy 8; Mosaicism

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Podaci o prilogu

245-x.

2003.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

Annales de genetique

0003-3995

Podaci o skupu

Nepoznat skup

ostalo

29.02.1904-29.02.2096

Povezanost rada

Temeljne medicinske znanosti, Kliničke medicinske znanosti

Indeksiranost