Study finds mosaicism in Down syndrome reduces Alzheimer's risk, providing new insights into genetic influences on cognitive ...

We present here the clinical findings in a female infant with mosaicism for a duplication of chromosome 12q13.3→12q21.2 accompanied by a pericentric inversion (12)(p13.3q21.2). No other cases with an ...

Furthermore, this report represents the first description of chromosomal mosaicism in the family Characidae so far. Besides revealing peculiar karyotypic patterns in relation to populations from other ...

Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends ...

“This work is really important because the X chromosome has largely been excluded from genetic studies in the past,” said Amy ...

Cancer genomics is the study of the totality of DNA sequence and gene expression differences between tumour cells and normal host cells. It aims to understand the genetic basis of tumour cell ...