Extraskeletal myxoid chondrosarcomas (EMCs) are characterized by a recurrent t(9;22)(q22;q12) translocation, resulting in the fusion of the EWS gene in 22q12 and the TEC gene in 9q22. Here we report that a third member of the EWS, TLS/FUS gene family, TAF2N, can replace EWS as a fusion partner to TEC in EMC. Two tumors, one with a novel t(9;17)(q22;q11) variant translocation and one with an app...

145 bandeo GTG se detectó el caso de un varón de 36 años de edad que presentó una variante de la translocación t(8;21). Los exámenes hematológicos y análisis de inmunofenotipo del paciente fueron compatibles con una LMA subtipo M2. La variante cromosómica consistió en la translocación entre los cromosomas 8 y 21 y la inversión del cromosoma 21 derivado, cuyo cariotipo fue descrito como: 46,XYqh...

A unique mutation of the JAK2 gene, V617F, has recently been identified in polycythemia vera, essential thrombocythemia and myeloid metaplasia with myelofibrosis. To determine the relevance of this mutation in other types of hematological neoplasms in Japan, we performed allele-specific polymerase chain reaction analysis on the JAK2 gene. The V617F mutation was detected in one out of 130 myeloi...

A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5q13-q31 segment, the constitutional 5q interstitial deletions fall into two groups: adult patients with Gardner-like symptoms and mental retardation associated with deletion 5q21-q22, and patients (mostly children) with unspecific signs and symptoms and different ...

Developmental dyslexia is characterised by difficulties in learning to read. As reading is a complex cognitive process, multiple genes are expected to contribute to the pathogenesis of dyslexia. The genetics of dyslexia has been a target of molecular studies during recent years, but so far no genes have been identified. However, a locus for dyslexia on chromosome 15q21 (DYX1) has been establish...