Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report

The 7q terminal deletion syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7 between 7q32 and 7q36.3. It is characterized by various clinical symptoms, such as abnormal facial features and impaired mental and physical development. Currarino syndrome is defined by a triad of sacral bone defects, anorectal malformations, and presacral masses and is often associated with mutations in the MNX1 gene located at 7q36.3. Only a few cases of 7q terminal deletion syndrome have been reported in Korea. In one of these familial cases, Currarino syndrome was associated with a complex chromosomal rearrangement involving a 7q deletion and an 8q duplication. However, to our knowledge, cases of isolated 7q terminal deletions without other structural chromosomal abnormalities have not been described in the literature. We report the case of a 9-month-old girl who presented with the complete Currarino syndrome triad and a 7q35 to 7q36.3 (12 Mb) deletion identified by chromosomal microarray analysis. To the best of our knowledge, this is the first Korean case report of the Currarino triad caused by an isolated terminal 7q deletion.