Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families

Most cases of sacral dysgenesis are considered to be sporadic events. We pr esent two families in whom the presence of associated clinical features pro mpted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All aff ected individuals had microcephaly and developmental delay. Detailed cytoge netic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sucral dysgenesis, developmental del ay ansi related problems. The three affected patients were studied clinical ly, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically ev aluating chromosome 7, Conclusion It is important that detailed family history. evaluation of asso ciated malformations and the overall clinical picture be considered in iden tifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.