17q11.2-microduplicatiesyndroom (aandoening)
trisomie 17q11.2
syndroom van Grisart-Destrée
17q11.2 microduplication syndrome
Trisomy 17q11.2
Grisart Destree syndrome
Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 17
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map139474
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified