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Research Article
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
  1. I A Glass,
  2. C A Swindlehurst,
  3. D A Aitken,
  4. W McCrea,
  5. E Boyd
  1. Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow.

    Abstract

    We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin pigmentation, and normal levels of isocitrate dehydrogenase.

    https://doi.org/10.1136/jmg.26.2.127

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