PEN-HUA SU2026-10-162026-10-162008-10-01Pure ID: 15010991Pure UUID: bb6b7177-5876-4d40-9ffd-109d9f92d1de10.1016/S1875-9572(09)60007-3https://www.scopus.com/pages/publications/59449090437https://scholars.csmu.edu.tw/handle/123456789/33517We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolution GTG banding (550-850 bands) showed a 7q terminal deletion. A detailed evaluation of associated malformations and the overall clinical picture should be taken into account when identifying the underlying diagnosis in cases of sacral dysgenesis with mental retardation.4enjournal article