Partial trisomy 7 (q32----qter) syndrome in two children

Two unrelated children are described with a partial trisomy 7 (q32----qter). Their phenotypes are compared with other reported cases with both this trisomy and others of the 7q arm. Several apparently useful pathognomonic features are distinguished. The phenotypic variability between trisomic persons within and between families is discussed. It is suggested that the disparate monosomies always associated with these trisomies may not make a major contribution to this variability. The importance for genetic counselling of reporting in detail the clinical appearance and development of all children with this rate trisomy is emphasised.