1q44 Microdeletion Syndrome

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Epidemiology

It has been reported in four unrelated patients.

Clinical description

The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.

Etiology

This microdeletion was identified by array CGH (comparative genomic hybridization).