PATERNALLY INHERITED DELETION OF CSH1 IN A PATIENT WITH SILVER-RUSSELL-SYNDROME

In a continuing study on the aetiology of Silver-Russell syndrome (SRS ), we detected a patient with a heterozygous deletion in the growth ho rmone gene cluster (17q22-q24). The deletion of the chorionic somatoma mmotrophin hormone 1 (CSH1) gene was inherited from the patient's fath er. The patient shows typical symptoms of SRS. Though deletions of CSH 1 have been reported without any phenotypic consequences, the heterozy gous deletion might be involved in the aetiology of SRS in The case pr esented here. Apart from other observations in SRS, like maternal unip arental disomy 7, changes in the genomic region 17q22-qter might be re sponsible for the expression of this syndrome for at least some of the patients, leading to the heterogeneity of SRS.