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

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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Detalhes bibliográficos
Main Authors: Glass, I A, Swindlehurst, C A, Aitken, D A, McCrea, W, Boyd, E
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015564/
https://ncbi.nlm.nih.gov/pubmed/2918541
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