Das Mikrodeletionssyndrom 20q11–q12

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.