Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele

We report on a new patient with a 7q terminal deletion. The 18-month-old boy had metal retardation, microcephaly, a distinctive face, bilateral coloboma, café-au-lait spot on the abdomen, and sacral agenesis. The high resolution GTG bands (550-850 bands), currently used in our laboratory, showed a 7q terminal deletion, which was also confirmed with fluorescence in situ hybridization (FISH). The homeobox HLXB9 gene, localized at 7q36 has been demonstrated to be involved in sacral agenesis; in fact patients with 7q terminal deletions frequently have this malformation. We could not perform molecular studies in this patient to confirm the HLXB9 haploinsufficiency, but we postulate that he carried it.