syndroom van 16p13.11-microduplicatie (aandoening)
syndroom van 16p13.11-microduplicatie
16p13.11 microduplication syndrome
Trisomy 16p13.11
A recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 16
Pathological processproces van pathologische ontwikkeling
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 map261243
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified