Complex chromosome rearrangements. Report of a new case and literature review.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome
D005954:Glucosephosphate Dehydrogenase