The microdeletion syndrome 20q11-q12 Case report on a rare but recurrent microdeletion syndrome

This article describes the rare but recurrent microdeletion syndrome 20q11-q12 based on the case description of a boy with a characteristic phenotype. The patient showed a mild combined developmental delay, was small for gestational age at birth, short stature, microcephaly, mild ptosis, flat feet and a very fair (non-familiar) complexion (skin, hair, iris) and mild facial dysmorphism. A trio exome analysis revealed a de novo microdeletion spanning 5Mb in 20q11.23-q12. In retrospect, the facial characteristics corresponded exactly to those of previously reported patients. This case could possibly have been solved with syndromic suspected diagnosis and array analysis.