Interstitial deletion 8p21.3----p23.1 in a 6-year-old girl.
We present a 6-year-old mentally retarded girl. Chromosome analysis showed an interstitial deletion of chromosome 8; 46,XX,del(8) (pter----p23.1::p21.3----qter). The proposita had normal activities of glutathione synthetase reductase (GSR) and factor VII. Parental chromosomes were normal.
Morrison
P J
PJ
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
Jones
J
J
Nevin
N C
NC
D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D005167:Factor VII / Q000235:genetics*; D005260:Female; D005980:Glutathione Reductase / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping
D005167:Factor VII; D005980:Glutathione Reductase