2. Academic Validation
  3. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase

  • J Med Genet. 1989 Feb;26(2):127-30. doi: 10.1136/jmg.26.2.127.
I A Glass 1,  C A Swindlehurst,  D A Aitken,  W McCrea,  E Boyd
Affiliations

Affiliation

  • 1 Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow.
PMID: 2918541 DOI: 10.1136/jmg.26.2.127
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.

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