20p12.3 Microdeletion Syndrome

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

Epidemiology

It has been clinically and molecularly characterized in 3 patients.

Clinical description

Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia.

Etiology

This syndrome is caused by an interstitial deletion encompassing 20p12.3. All these deletions except one occurred de novo and were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size with the smallest region of overlap including only one gene, BMP2, which is a good candidate gene for explaining the phenotype of Wolff-Parkinson-White syndrome.