Rubinstein-Taybi Syndrome in a Family with Familial Mental Retardation
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:
Overview
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
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2002 Issue 8
Most read in this issue
- Hydronephrosis in Children and Adolescents
- Rubinstein-Taybi Syndrome in a Family with Familial Mental Retardation
- Immunomodulation of Recurrent Urinary Tract Infections in a Paediatric Patient with VesicouretheralReflux (Case report)
- Prevalence of Coeliac Disease among Parents and Siblings of Children with Coeliac Disease