Abstract:
:Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S1 loci, located at 14q32.3 and 14q32.2 respectively, were deleted on the ring chromosome 14, but that the PI locus was not. Therefore, the chromosomal break lies between PI and D14S1. These results show that the order of these chromosome 14 markers is cen-PI-D14S1-IGH, in keeping with multipoint linkage data. Further molecular characterization of ring 14 chromosomes should lead to a detailed understanding of the molecular events and clinical consequences of the gene deletion associated with such chromosomal aberrations.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Keyeux G,Gilgenkrantz S,Lefranc G,Lefranc MPdoi
10.1007/BF00291158subject
Has Abstractpub_date
1989-06-01 00:00:00pages
219-22issue
3eissn
0340-6717issn
1432-1203journal_volume
82pub_type
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