19q13 microdeletion syndrome: Further refining the critical region

The 19q13 microdeletion syndrome is a recently identified disorder of which very few cases have been reported so far. Growth deficiency, microcephaly, ectodermal anomalies and intellectual disability are the major features reported in all the described cases. The critical region has been estimated to span 750 Kb. We report an Italian patient carrying a de novo 1.37 Mb deletion in chromosome 19q13, who presented all the cardinal features of the syndrome, and multiple pituitary hormone deficiency. Our findings might contribute to further refine the critical region to 460 Kb and restrict the list of candidate genes.

► We present a further patient affected by 19q13 microdeletion syndrome.
► This is a very rare, recently identified disorder.
► The deletion we identified contributes to refine the critical region.
► Features are intellectual disability, aplasia cutis, microcephaly, growth deficiency.