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.

Article Outline

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

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References 

  1. Benzacken B , Siffroi JP , Le Bourhis CL , et al.   Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly . J Med Genet . 1997;34:899–903
  2. Frints SGM , Schrander-Stumpel CTRM , Schoenmakers EFPM , et al.   Strong variable clinical presentation in 3 patients with 7q terminal deletion . Genet Couns . 1998;9:5–14
  3. Masuno M , Fukushima Y , Sugio Y , Ikeda M , Kuroki Y . Two unrelated cases of single maxillary central incisor with 7q terminal deletion . Jpn J Hum Genet . 1990;35:311–317
  4. Rodriguez L , Cuadrado Perez I , Herrera Monte J , Lorente Jareno ML , Lopez Grondona F , Martinez-Frias ML . Terminal deletion of the chromosome 7(q36–qter) in an infant with sacral agenesis and anterior myelomeningocele . Am J Med Genet . 2002;110:73–77
  5. Horn D , Tonnies H , Neitzel H , et al.   Minimal clinical expression of the holoprosencephaly spectrum and of currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3 . Am J Med Genet A . 2004;128:85–92
  6. Greulich WW , Pyle SI . Radiographic atlas of skeletal development of the hand and wrist . Stanford, CA: Stanford University Press; 1959;
  7. Kamphaus R . Clinical assessment of children's intelligence . Boston, MA: Allyn and Bacon; 1993;
  8. Lynch SA , Bond PM , Copp AJ , et al.   A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36 . Nat Genet . 1995;11:93–96
  9. Gurrieri F , Trask BJ , Van Den Engh G , et al.   Physical mapping of the holoprosencephaly critical region on chromosome 7q36 . Nat Genet . 1993;3:247–251
  10. Pang D . Sacral agenesis and caudal spinal cord malformations . Neurosurgery . 1993;32:755–779
  11. Wang J , Spitz L , Hayward R , et al.   Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families . Eur J Pediatr . 1999;158:902–905
  12. Currarino G , Coln D , Votteler T . Triad of anorectal, sacral and presacral anomalies . Am J Roentgenol . 1981;137:395–398
  13. Belloni E , Martucciello G , Verderio D , et al.   Involvement of the HLXB9 homeobox gene in Currarino syndrome . Am J Hum Genet . 2000;66:312–319

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

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