2p15p16.1 microdeletion syndrome
2p15-p16.1 microdeletion syndrome; Del(2)(p15p16.1); Monosomy 2p15-p16.1; Monosomy 2p15p16.1
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
It has been clinically and molecularly characterized in 5 patients.
- This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient).
- These de novo deletions were characterized by comparative genomic hybridisation (CGH) microarray and fluorescence in situ hybridization (FISH).
- They have a variable size from 570 kb to 5.7 Mb and encompass several genes.
- Haploinsufficiency of these genes could contribute to the phenotype.
Signs and symptoms
- 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.
- Ophthalmologic examination in 4 patients revealed bilateral optic atrophy/hypoplasia.
- Microcephaly, short stature, genitourinary abnormalities and behavioral problems are common.
NIH genetic and rare disease info
2p15p16.1 microdeletion syndrome is a rare disease.