Complex chromosome rearrangements:Report of a new case and literature review
- 1 December 1980
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 18 (6) , 436-444
- https://doi.org/10.1111/j.1399-0004.1980.tb01790.x
Abstract
A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin--the first such instance to be recorded.Keywords
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