Case Reports
doi: 10.1111/j.1399-0004.1980.tb01790.x.
Complex chromosome rearrangements. Report of a new case and literature review
- PMID: 7449183
- DOI: 10.1111/j.1399-0004.1980.tb01790.x
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Case Reports
Complex chromosome rearrangements. Report of a new case and literature review
Clin Genet.
1980 Dec.
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.
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