Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of ...

Esotropia and exotropia could have shared genetic risk factors based on findings that genetif duplications on chromosomes were risk factors for the diseases. Genetic duplications in the second, fourth ...

A mother-of-four from Cradley Heath, near Birmingham, has spoken of her two-year-old daughter's diagnosis with an extremely rare disorder, discovered by chance during an unrelated hospital visit.

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's. The Parkinson's disease 2 (PARK2) ...

Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD Such observations emphasize the importance of clarifying the origin of a genetic variation by studying the parents for comparison. The ...

Aging men often lose the Y chromosome in a growing number of their cells—and it may be far more dangerous than once believed.