title: Sacral dysgenesis associated with terminal deletion of chromosome 7 (q36-qter).
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.
authors.affiliation: Division of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Jia-Yuh
authors.initials: JY
authors.lastname: Chen
authors.forename: Suh-Jen
authors.initials: SJ
authors.lastname: Chen
authors.forename: Teng-Fu
authors.initials: TF
authors.lastname: Tsao
authors.forename: Yu-Jie
authors.initials: YJ
authors.lastname: Lai
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D012447:Sacrum / Q000002:abnormalities*