TY  - JOUR
A1  - Tunnacliffe, Alan
A1  - Jones, Christopher
A1  - Le Paslier, Denis
A1  - Todd, Roger
A1  - Cherif, Dora
A1  - Birdsall, Michelle
A1  - Devenish, Louise
A1  - Yousry, Cherine
A1  - Cotter, Finbarr E.
A1  - James, Michael R.
T1  - Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q
Y1  - 1999/01/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 44 
EP  - 52 
DO  - 10.1101/gr.9.1.44 
VL  - 9 
IS  - 1 
UR  - http://genome.cshlp.org/content/9/1/44.abstract 
N2  - Jacobsen syndrome is a haploinsufficiency disorder caused, most frequently by terminal deletion of part of the long arm of chromosome 11, with breakpoints in 11q23.3–11q24.2. Inheritance of an expanded p(CCG)
n
 trinucleotide repeat at the folate-sensitive fragile site FRA11B has been implicated in the generation of the chromosome breakpoint in several Jacobsen syndrome patients. The majority of such breakpoints, however, map distal to this fragile site and are not linked with its expression. To characterize these distal breakpoints and ultimately to further investigate the mechanisms of chromosome breakage, a 40-Mb YAC contig covering the distal long arm of chromosome 11 was assembled. The utility of the YAC contig was demonstrated in three ways: (1) by rapidly mapping the breakpoints from two new Jacobsen syndrome patients using FISH; (2) by demonstrating conversion to high resolution PAC contigs after direct screening of PAC library filters with a YAC clone containing a Jacobsen syndrome breakpoint; and (3) by placing 23 Jacobsen syndrome breakpoints on the physical map. This analysis has suggested the existence of at least two new Jacobsen syndrome breakpoint cluster regions in distal chromosome 11. 
ER  -