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J Med Genet 33:877-878 doi:10.1136/jmg.33.10.877
  • Research Article

Currarino triad with a terminal deletion 7q35-->qter.

  1. M Masuno,
  2. K Imaizumi,
  3. N Aida,
  4. Y Tanaka,
  5. K Sekido,
  6. Y Ohhama,
  7. T Nishi,
  8. Y Kuroki
  1. Division of Medical Genetics, Kanagawa Children's Medical Centre, Yokohama, Japan.

      Abstract

      We describe a de novo terminal deletion of the long arm of chromosome 7 in a 5 year old girl with the Currarino triad, characterised by congenital anorectal stenosis, a sacral defect, and a presacral mass. Recently, this autosomal dominant trait has been shown to be linked to 7q36, the same region as holoprosencephaly (HPE3). The cytogenetic findings in the present patient with the Currarino triad provided further evidence that a gene(s) for the Currarino triad is located in the 7 q terminal segment.