Interstitial deletion 8p21.3 → p23.1 in a 6-year-old girl |
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| Authors: | Patrick J. Morrison June Jones Norman C. Nevin |
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| Affiliation: | Department of Medical Genetics, The Queen's University of Belfast, Belfast, Northern Ireland |
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| Abstract: | 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. |
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| Keywords: | del(8p) normal GSR factor VII |
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