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Keywords:

  • del9q34.11–q34.13;
  • intellectual disability;
  • hydrocephalus;
  • SNP array;
  • DYT1/TOR1A;
  • SPTAN1

Abstract

Interstitial deletions of chromosome bands 9q34.11–q34.13 are rare. We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs. Array analysis revealed a 3.7 Mb interstitial deletion in 9q34.11–q34.13. The deletion harbors more than 60 genes, including SPTAN1, DYT1/TOR1A, ABL1, ASS1, LAMC3, POMT1, DOLK, and GLE1, mutations in which have previously been associated with monogenic disorders. This is the first patient with a deletion of this size and position in 9q34.11–q34.13. Reports of additional patients with aberrations in this region will be needed to establish karyotype–phenotype correlations and to gain information on the contribution of individual genes for the clinical manifestations. © 2012 Wiley Periodicals, Inc.