• 9q34 deletion
• mental retardation
• obesity
• telomeric rearrangement

Obesity is a symptom of diagnostic value in multiple congenital anomaly-mental retardation syndromes. While acquired non-specific weight gain related to drug intake or associated behavioural disorders occasionally occurs in the course of mental retardation, obesity is known to be a specific feature of several well defined conditions, including Bardet-Biedl syndrome, Prader-Willi syndrome, Cohen syndrome, fragile X syndrome, and several chromosomal anomalies. Yet a number of mentally retarded children with apparently early onset weight gain remain undiagnosed. Here, we report on a de novo deletion of chromosome 9q34 in two unrelated mentally retarded children with early onset obesity, distinctive facial features (brachycephaly, synophrys, anteverted nostrils, prognathism), sleep disturbances, and behavioural problems. FISH and microsatellite DNA analyses showed that the two children carried a similar small deletion (3 Mb) of the terminal long arm of chromosome 9 (del 9q34). We suggest therefore that the del 9q34 is a novel cause of syndromic obesity and mental retardation. Its association with distinctive facial features and behavioural problems should help in recognising this novel phenotype. Based on this observation, we suggest giving consideration to cryptic deletions of chromosome 9q34 in the diagnosis of unexplained obesity/mental retardation syndromes