In the pediatric cancer alveolar rhabdomyosarcoma, characteristic t(2;13)(q35;q14) or variant t(1;13)(p36;q14) chromosomal translocations generate PAX3-FKHR or PAX7-FKHR fusion genes. Using fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction and quantitative Southern blot analyses, we demonstrate that these fusion genes are amplified in 20% of fusion-positive tum...

Fusion genes: Ewing sarcoma: t(11;22)(q24;q12) EWS-FLI1 t(21;22)(q22;q12) EWS-ERG t(7;22)(p22;q12) EWS-ETV1 others FUS-ERG, EWS-FEV, Desmoplastic SRCT: t(11;22)(p13;q12) EWS-WT1 Extraskel myxoid chondrosarc: t(19;22)(q22;q12) EWS-TEC(CHN) Malignant mesenchymoma: t(11;22)(q24;q12) EWS-FLI1 Alveolar rhabdomyosarcoma: t(2;13)(q35;q14) PAX3-FKHR t(1;13)(p36;q14) PAX7-FKHR Myxoid round cell liposarc...

Although the t(2;13)(q35;q14) translocation has been found in most cases of the pediatric cancer alveolar rhabdomyosarcoma, several cases have been reported with a variant t(1;13)(p36;q14) translocation. Our findings indicate that this t(1;13) rearranges PAX7 on chromosome 1 and fuses it to FKHR on chromosome 13. This fusion results in a chimeric transcript consisting of 5' PAX7 and 3' FKHR reg...

CONTEXT Chromosomal abnormalities that involve the proximal region of chromosome 15q occur relatively frequently in the human population. However, interstitial triplications involving one 15 homologue are very rare with three cases reported to date. OBJECTIVE To provide a detailed molecular characterisation of four additional patients with interstitial triplications of chromosome 15q11-q14. ...

We report a case of an intramuscular lipoma with the following karyotype: 46,XY,t(12;14) (q14–15;q24). To our knowledge, this is the third report of a t(12;14) as a sole abnormality in a lipoma. © Elsevier Science Inc., 1998

The gene for the human major intrinsic protein (MIP) of the ocular lens fiber membrane has been assigned to region cen-q14 of chromosome 12 through the use of somatic cell hybrids containing the whole chromosome and parts of human chromosome 12.