2p15p16.1 microdeletion syndrome

Alternate names

2p15-p16.1 microdeletion syndrome; Del(2)(p15p16.1); Monosomy 2p15-p16.1; Monosomy 2p15p16.1

Definition

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

Epidemiology

It has been clinically and molecularly characterized in 5 patients.

Cause

• 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

• NIH info on 2p15p16.1 microdeletion syndrome

2p15p16.1 microdeletion syndrome is a rare disease.

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