Chromosome 13q14 Mutations

Definition and Characteristics

The acrocentric satellite carrying chromosome has a relative length of 3,74 (in percentage of the total haploid autosome length) and a centromere index of 17,08 (length of the short arm divided by total chromosome length × 100) (Fig. 1). The physical length is about 114 Mb. In 13q13.2 and in 13q21 common fragile sites are localized, which do not predispose, according to our present knowledge, to the formation of structural aberrations [1–3].

Chromosome 13q14 Mutations. Figure 1

13q14 as presented by conventional banding techniques, FISH, and molecular genetic analysis. (a) Ideogram of chromosome 13 at a resolution of 850 bands per genome. (b) Hybridization of the region 13q14 (green signal, 600 kb) by a commercial DNA-probe; (Abbot/Vysis). (c) The exon/intron structure of the Rb1 gene with 27 coding regions. The euchromatin of the long arm consists preferentially of AT-rich regions and is therefore late replicating in the S-phase of the cell cycle in...