Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. Issue 2 (February 1989)

• Record Type: Journal Article
• Authors: Glass, I A; Swindlehurst, C A; Aitken, D A; McCrea, W; Boyd, E
• Is Part Of: Journal of medical genetics. Volume 26:Issue 2(1989)
• Page Start: 127
• Page End: 130
• Publication Date: 1989-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.26.2.127
• Languages: English
• ISSNs: 1468-6244

Abstract

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.