Partial trisomy 4q syndrome: Case report and review |
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Authors: | Jaroslav Cervenka Gholam Reza Djavadi Robert J Gorlin |
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Institution: | (1) Department of Clinical Laboratories, Radiation Effects Research Foundation, Hiroshima City, Japan |
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Abstract: | Summary In the course of chromosome studies of atomic bomb survivors in Hiroshima using the trypsin-G-banding and Q-banding methods, a 40-year-old male was found to have an abnormal banding pattern in the long arm of a chromosome 7, although no such abnormality was detected by ordinary staining method. Since all other chromosomes apparently had normal banding patterns, the abnormality was determined to be a paracentric inversion of a chromosome 7, which is described as 46,XY,inv(7)(q22q31). This is the first demonstration of a possible paracentric inversion in man. |
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