[44] Combining a limited karyotype with the more objective microarray data will allow for a clearer interpretation for any disease-causing chromosome abnormalities, if any, in the fetus undergoing ...

Chromosome abnormality is the condition in a cell or organism where the number of chromosomes or the structure of any chromosome differs from the normal karyotype. When the variant genotype is not ...

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders ...

Epithelial cells, which line many body surfaces, can transform into several types of cancer. These transformed cancer cells often have an abnormal number of chromosomes, either more or less than the ...

Chromosomal (cytogenetic) abnormalities Alterations of chromosomes that can be seen under a microscope Aneuploidy Loss of 1 of a pair of chromosomes (opposite of polyploidy, which is more than 2 ...

For patients with neurodevelopmental disorders (NDDs), a genomics-informed model can provide clinical benefits, directly ...

A new study from researchers at The University of Texas MD Anderson Cancer Center finds that, in healthy women, some breast cells that otherwise appear normal may contain chromosome abnormalities ...

Renowned scientist Dr. Cathy Barr reveals groundbreaking insights into the genetic underpinnings of childhood psychiatric and ...

Created with Sketch. This rare sex chromosome abnormality, also referred to as Jacob’s syndrome, occurs when a male infant is born with an extra Y chromosome. Some symptoms include being tall ...

Hyderabad: India is home to an estimated 72 million people affected by rare diseases, said scientists at the Centre for DNA ...