Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, FN v Motole, Praha, vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2002; (8): 433-435. Category:
Interstitial microdeletion of the short arm of chromosome 16 is responsible for clinical features of theRubinstein-Taybi syndrome. In most cases there is a very short microdeletion, with the character of point mutationand therefore sequencing of CBP gene is necessary for the detection of the mutation. Author reports a case of aninfant patient with familial occurrence of mental retardation.
Key words: interstitial microdeletion of 16p, point mutation of CBP gene, Rubinstein-Taybi syndrome, familialoccurrence of mental retardation
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