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Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7 *
Author(s) -
Baeteman M. A.,
Philip N.,
Mattei M. G.,
Mattei J. F.
Publication year - 1985
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.1399-0004.1985.tb02041.x
Subject(s) - locus (genetics) , biology , genetics , microbiology and biotechnology , chromosome , diaphorase , enzyme , gene , biochemistry
We report here four cases of unbalanced chromosomal rearrangements involving partial monosomies and trisomies of chromosome 7. The quantitative expression of diaphorase 2 (DIA‐2), beta‐glucuronidase (GUS‐ β ) and argino‐succinate‐lyase (ASL) were measured in these patients and compared with controls. The results suggest that the DIA‐2 locus is in the band 7p221→q21, the GUS‐ β locus in the band 7p22