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Duplication‐deletion syndrome in a family with pericentric inversion of chromosome 6
Author(s) -
Schroer Richard J.,
Culp Donna M.,
Stevenson Roger E.,
Potts William E.,
Taylor Harold A.,
Simensen Richard J.
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.tb01369.x
Subject(s) - chromosomal inversion , genetics , trisomy , gene duplication , chromosome 9 , biology , inversion (geology) , chromosome , karyotype , gene , paleontology , structural basin
A case of trisomy for a portion of the long arm of chromosome 6, secondary to recombination of a maternal pericentric inversion, is presented. The pericentric inversion was documented in three generations of a family with a number of spontaneous abortions and periinatal deaths.