Fabiana Ursitti, Laura Papetti, Francesco Nicita, Fiorenza Ulgiati, Irene Cecchi, Natalia Manfredi, Annalisa Di Maggio, Alberto Spalice.

The 22q13.3 deletion causes a neurodevelopmental syndrome, also known as Phelan-McDermid syndrome (MIM #606232), characterized by developmental delay and severe delay or absence of expressive speech(1).

We describe a 2-year-old girl with severe developmental delay carry a 22q13 terminal deletion associated to ring 22 chromosome who had left opercular polymicrogyria associated with right retrocerebellar cyst.( Fig.1 a, b).

Polymicrogyria (PMG) is a malformation of cortical development due to an abnormal organisation. It is a heterogeneous disorder associated with genetic and acquired events, namely 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS) /velocardiofacial syndrome (VCFS) among others(2).

We suggest that in children with 22q alteration/deletion, polymicrogyria should be ruled out