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FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure
Author(s) -
Riva P.,
Magnani I.,
Conti A. M. Fuhrmann,
Gelli D.,
Sala C.,
Toniolo D.,
Larizza L.
Publication year - 1996
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.1399-0004.1996.tb02642.x
Subject(s) - breakpoint , biology , chromosomal translocation , genetics , fish <actinopterygii> , fluorescence in situ hybridization , cytogenetics , x chromosome , microbiology and biotechnology , chromosome , gene , fishery
A panel of ordered YAC clones, isolated using STSs in the Xq13‐Xq23 region, was used to characterize by Fluorescent In Situ Hybridization (FISH) the Xq21 breakpoint in a t(X;1)(q21;p34) translocation female with premature ovarian failure. The YAC 949E11 was found to span the breakpoint, but also to join the two non‐overlapping YACs 36CB1 and 40AB3, proximal and distal, respectively, to the patient's Xq21 breakpoint.