Sacral dysgenesis associated with terminal deletion of chromosome 7 (q36-qter)
Pen-Hua Su1, Jia-Yuh Chen, Suh-Jen Chen
1Division of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Pediatrics and Neonatology
|January 13, 2009
Abstract:
We 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.
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