November 2012

Acute myeloid leukaemia associated to chromosome 6: Clinical and phenotypical implications in two pediatric patients with chromosome trisomy and translocation

  Chromosome aberrations are considered alterations in the chromosome number or structure. They are mainly considered due to gametogenesis inborn error or during the zygote first cellular divisions. Among 4617 chromosomal studies performed during 19 years (from 1992 to 2011), at Hospital Para El Niño Poblano in México, 34.6% (1596 patients) had chromosomal alterations. Among these study...

Author(s):   Aparicio-Rodríguez J. M., Hurtado-Hernández M. L., Marroquín-García I., Rojas-Rivera G. A., Cuellar-López F., Cubillo-León M. A., Garrido-Hernández M. A.and Chatelain-Mercado S.

November 2012

Evaluation of genetic heterogeneity in glutamate carboxypeptidase II (H475Y) and reduced folate carrier (SLC19A1) gene variants increased risk factor for the development of neural tube defects in eastern region of India

In humans, neural tube failure to close during the 4th week of gestation leads to the development of severe congenital malformations of the central nervous system because of an error in maternal folate metabolism associated gene variants. The frequency of genotypic variants of GCP II (H475Y) and folate carrier RFCI (SLC19A1) gene polymorphism (80 G →A) were evaluated as potential candidate gene(s) and also assess...

Author(s): Ajit Kumar Saxena, S. Pandey and L. K. Pandey