A pericentric inversion of a chromosome 4 with a t(4q+10p-) and a familial t(DqDq) in a mentally retarded girl |
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| Authors: | S. W. Soukup W. Yarema M. Robinow |
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| Affiliation: | (1) Children's Hospital Research Foundation, Elland and Bethesda Avenue, 45229 Cincinnati, Ohio;(2) St. Elizabeth's Medical Center, 601 Miami Boulevard West, 45408 Dayton, Ohio;(3) Birth Defects Clinic, Children's Medical Center, 45408 Dayton, Ohio |
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| Abstract: | 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.This study was supported by grant No. HD-05221. |
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