Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, Praha vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2003; (8): 500-502. Category:
Mutations in somatic cells are at least as common as in gamets. Chromosomal unbalanced aberration andautosomal gene mutation in early postzygotic status are reason of multiple malformations as well as mental andsexual defects. If the affections are not genetic lethal, can be transmitted in next generations in more severe formdue to non-mosaic form (one of etiology of anticipation).Author refers Killian-Pallister syndrome due to mosaic form of trisomy of 12p with typical phenotype. Theimportance of syndromologic diagnosis for effective indication of special investigation and elutiation of etiologyfor genetic prognosis of parental reproduction is emphasized.
Key words: Killian-Pallister chromosomal mosaic syndrome, postzygotic mutation, multiple malformations,severe central muscular hypotonia, genetic prognosis of parental reproduction
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