20p12.3 microdeletion syndrome
Del(20)(p12.3); Monosomy 20p12.3
It has been clinically and molecularly characterized in 3 patients.
- 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.
Signs and symptoms
Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
30%-79% of people have these symptoms
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- Epicanthus(Eye folds)
- Hypoplasia of the maxilla(Decreased size of maxilla)
- Macrocephaly(Increased size of skull)
- Malar flattening(Zygomatic flattening)
- Narrow mouth(Small mouth)
- Short stature(Decreased body height)
- Wolff-Parkinson-White syndrome
5%-29% of people have these symptoms
- Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
- Broad hallux phalanx(Broad bone of big toe)
- Broad thumb(Broad thumbs)
- Depressed nasal bridge(Depressed bridge of nose)
- Full cheeks(Apple cheeks)
- Long philtrum
- Microtia(Small ears)
- Muscular hypotonia(Low or weak muscle tone)
- Pectus carinatum(Pigeon chest)
- Thickened helices
- Wide nasal bridge(Broad nasal bridge)
NIH genetic and rare disease info
20p12.3 microdeletion syndrome is a rare disease.