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16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
ORPHA:261250Classification level: Disorder
- Monosomy 16q24.3
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable or Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q93.5
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 10935
- MedDRA: -
It has been clinically and molecularly characterized in 4 patients.
Facial dysmorphism includes high forehead, large ears, smooth philtrum, pointed chin and wide mouth. Anomalies of the brain and neonatal thrombocytopenia can be observed.
This syndrome is caused by an interstitial deletion encompassing 16q24.3. These de novo deletions were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They vary in size, the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778).