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De novo inverted duplication of chromosome 7(q21.3→q35): cytogenetic diagnosis confirmed by FISH analysis
Author(s) -
Back E,
Toder R,
Fuchshuber A
Publication year - 2001
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 - 10.1034/j.1399-0004.2001.600113.x
Subject(s) - gene duplication , fluorescence in situ hybridization , biology , fish <actinopterygii> , genetics , karyotype , chromosome , microbiology and biotechnology , gene , fishery
We report on a newborn female patient with a de novo pure partial duplication of 7q. The clinical features are compared with those of 19 cases from the literature with pure partial duplication of different segments of 7q. Conventional cytogenetic investigation led to the diagnosis of duplication of bands q21.3 to q35. This was confirmed by chromosome painting and by fluorescence in situ hybridization with different YAC probes from the duplicated region.