Trisomy 8 mosaicism syndrome.
Authors present the case of a 15-year-old boy assessed for Marfan syndrome for many years. The child was treated because of skeletal defects, mild mental deficiency and dysmorphic features of face. Chromosomal analysis showed a trisomy 8 mosaicism.
Wiśniewska
Marzena
M
Department of Medical Genetics, Karol Marcinkowski University of Medical Sciences, Poznań, Poland. wisniew@sk5.usoms.poznan.pl
Mazurek
Małgorzata
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D008297:Male; D009030:Mosaicism; D014314:Trisomy