Pediatrics & Neonatology
Volume 49, Issue 3 , Pages 88-93, June 2008

Terminal Deletion of Chromosome 6q

  • Pen-Hua Su

      Affiliations

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

      Affiliations

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

    • Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan
    • Department of Pediatrics, Division of Genetics, Chung Shan Medical University Hospital, Taichung, Taiwan
    • ,
  • Kai-Chi Yang

      Affiliations

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

Received 15 October 2007; received in revised form 14 February 2008; accepted 25 June 2008.

Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature. Features of previously described patients are also summarized.

Key Words:  chromosome 6q , deletion , psychomotor retardation , short stature

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PII: S1875-9572(08)60019-4

doi:10.1016/S1875-9572(08)60019-4

Pediatrics & Neonatology
Volume 49, Issue 3 , Pages 88-93, June 2008

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