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
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