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Complex chromosome rearrangements:Report of a new case and literature review
Author(s) -
Pai G. S.,
Thomas George H.,
Mahoney William,
Migeon Barbara R.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb01790.x
Subject(s) - proband , autosome , chromosomal translocation , genetics , locus (genetics) , biology , x chromosome , abnormality , chromosome , gene , medicine , mutation , psychiatry
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.