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.
Glass
I A
IA
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow.
Swindlehurst
C A
CA
Aitken
D A
DA
McCrea
W
W
Boyd
E
E
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000201:enzymology / Q000235:genetics; D007521:Isocitrate Dehydrogenase / Q000378:metabolism*; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000201:enzymology / Q000235:genetics; D010859:Pigmentation Disorders / Q000150:complications / Q000201:enzymology / Q000235:genetics
D007521:Isocitrate Dehydrogenase