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Short report
De novo 10q22 interstitial deletion
  1. Lola Cooka,
  2. David D Weavera,
  3. James K Hartsfield, Jra,c,
  4. Gail H Vancea,b
  1. aDivision of Clinical Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, Indianapolis, IN 46202-5251, USA, bDivision of Cytogenetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA, cDepartment of Oral-Facial Development, Indiana University School of Dentistry, Indianapolis, IN, USA
  1. Ms Cook.

Abstract

We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the first reported case of an interstitial deletion of 10q22.

  • chromosome 10
  • interstitial deletion
  • deletion 10q
  • multiple congenital anomaly (MCA) syndrome

https://doi.org/10.1136/jmg.36.1.71

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