Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome.

Partial duplication of the long arm of chromosome 1 has been described in more than 200 patients. In most of these cases, the duplication is the result of an unbalanced segregation of a parental balanced translocation. Patients with duplications of 1q are therefore monosomic for the other chromosomal material involved in the translocation. The phenotypic result of such chromosomal abnormalities is difficult to predict. We present a patient with a pure de novo duplication of chromosome 1q32.1-q42.1. The phenotype described here is solely the result of the trisomy 1q32.1-q42.1. Our patient has many features in common with Silver-Russell syndrome and several previously reported patients with chromosomal abnormalities have had features suggestive of Silver-Russell syndrome. To our knowledge this is the first description of a patient with a pure de novo trisomy of chromosome 1q32.1-q42.1. Pure trisomy 1q32.3-q42 has been reported once and pure trisomy 1q32-q42 has been reported twice before. More reports of patients with this cytogenetic abnormality are needed for further delineation of the phenotype.