del(2)(p15p16.1)

Epidemiology and Etiology:

· 4 patients described in the literature so far

· No LCRs described here

Common sites:

·

Gross features:

· Postnatal growth delay

· Microcephaly present from birth

· brachycephaly and bitemporal narrowing

· high palate

· facies:

· telecanthus

· shortened palpebral fissures, downslanted

· strabismus

· ptosis

· prominent / high nasal bridge and prominent tip

· everted lower lips

· large low-set ears

· camptodactyly of 5^th fingers bilaterally

· metatarsus abductus

· hypoplasia of optic nerve

· lower extremity spasticity

· renal abnormalities

· multicystic kidney, unilateral (1 patient)

· hydronephrosis, unilateral (1 patient)

· renal cystic dysplasia

· MRI abnormalities (variable)

Histologic features:

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

· Minimally deleted region amongst 4 patients is only 170 kb

· VRK2 gene is a candidate for the main phenotypic features and MR

· ?not common breakpoints

Other features:

· Moderate to severe MR

· Autistic spectrum

· Mild visual impairment d/t optic nerve hypoplasia

References:

· Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum. Genet. 2008;124(1):1-17.