2p15p16.1-microdeletiesyndroom (aandoening)
2p15p16.1 microdeletion syndrome
Monosomy 2p15p16.1
A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Dysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype.
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 2
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map261349
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified