Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the NSD1 gene. In this study, we report a case of preterm infant. The main clinical manifestations were severe bronchopulmonary dysplasia, congenital heart disease, difficulty feeding, and characteristic facial appearance. gene mutation was located at 177251854 on chromosome 5, identified as shear mutation, c.4765+1...

introduction: cleft lips and cleft palates are common congenital abnormalities in children. various chromosomal loci have been suggested to be responsible the development of these abnormalities. the present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [mthfr] a1298c and c677t) that might contribute into the etiology of the...

Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

The GC-content is very variable in different genome regions and species but although many hypothesis we still do not know the reason why. Here we show that a relationship exists with the mutation rate, in particular we noticed a new recurrence in the amino acids coding table. Moreover we analyze recombination frequency taking into account Single Nucleotide Polymorphisms hourglass distribution. ...