2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

摘要

2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations. Based on the present and published patients with 2q33 deletions, we suggest that the critical region for the Glass syndrome may be larger than initially proposed. Moreover, we suggest that brain abnormalities might be an additional feature of the 2q33 microdeletion syndrome, but that anorectal malformation is likely not a key marker. (C) 2016 S. Karger AG, Basel