Summary
A complex chromosome abnormality consisting of a pericentric inversion of a chromosome 4, a t(4q+10q-) and a familial t(13q14q) was found in a 12-year-old girl showing minor dysmorphic stigmata, moderate mental retardation and an expressive aphasia. The structural chromosome rearrangements were analyzed by Giemsa (G), quinacrine fluorescence (Q) and terminal acridine orange (T) banding techniques. No loss of chromosome material could be demonstrated to account for the patient's defects.
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This study was supported by grant No. HD-05221.
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Soukup, S.W., Yarema, W. & Robinow, M. A pericentric inversion of a chromosome 4 with a t(4q+10p-) and a familial t(DqDq) in a mentally retarded girl. Hum Genet 25, 69–78 (1974). https://doi.org/10.1007/BF00281009
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DOI: https://doi.org/10.1007/BF00281009