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A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization
Author(s) -
Koch J.,
Kølvraa S.,
Hobolt N.,
Petersen G. B.,
Willard H. F.,
Waye J. S.,
Gregersen N.,
Bolund L.
Publication year - 1990
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.1399-0004.1990.tb03505.x
Subject(s) - in situ hybridization , chromosome , marker chromosome , biology , genetics , in situ , fluorescence in situ hybridization , microbiology and biotechnology , ring chromosome , hybridization probe , chromosome 22 , high resolution , karyotype , dna , gene , chemistry , gene expression , remote sensing , organic chemistry , geology
A small marker chromosome was identified as an X‐derived ring chromosome by in situ hybridization with a biotinylated X‐chromosome specific a ‐satellite DNA probe. This procedure clearly determined the chromosomal origin of the marker chromosome, which had been impossible to define by conventional cytogenetic techniques including high resolution banding.

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