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Case Reports
. 1989 Feb;26(2):127-30.
doi: 10.1136/jmg.26.2.127.

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

I A Glass  1 , C A Swindlehurst, D A Aitken, W McCrea, E Boyd
Affiliations
Case Reports

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

I A Glass et al. J Med Genet. 1989 Feb.

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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References

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    1. Am J Med Genet. 1983 May;15(1):121-6 - PubMed
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    1. J Med Genet. 1983 Jun;20(3):199-202 - PubMed

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