Pediatrics & Neonatology
Volume 49, Issue 5 , Pages 189-192, October 2008

Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter)

  • Pen-Hua Su

      Affiliations

    • Division of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Jia-Yuh Chen

      Affiliations

    • Department of Pediatrics, Chung Shan Medical University, Taichung, Taiwan
    • Corresponding Author InformationCorresponding author. Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, 110 Chien-Kuo North Road, Section 1, Taichung 402, Taiwan
    • ,
  • Suh-Jen Chen

      Affiliations

    • Division of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Teng-Fu Tsao

      Affiliations

    • Department of Diagnostic Radiology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Yu-Jie Lai

      Affiliations

    • Division of Genetics and Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan

Received 30 October 2007; received in revised form 18 April 2008; accepted 19 September 2008.

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.

Key Words:  chromosome 7q , deletion , sacral dysgenesis

No full text is available. To read the body of this article, please view the PDF online.

 

PII: S1875-9572(09)60007-3

doi:10.1016/S1875-9572(09)60007-3

Pediatrics & Neonatology
Volume 49, Issue 5 , Pages 189-192, October 2008

Article Tools