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 newborn male with Fryns syndrome (FS), a lethal autosomal recessive condition, also had mosaic tandem duplication of chromosome 1q. Multiple malformations were noted at birth including diaphragmatic ...

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 ...

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) ...

For a living cell to divide successfully, each daughter cell must inherit the correct genetic material. In eukaryotes, segregation of duplicated chromosomes is performed by the mitotic spindle, a ...

For sexual reproduction to yield healthy offspring, newly generated oocytes—immature egg cells—must receive the correct amount of DNA after cell division. This process of segregating chromosomes ...

Scientists have sequenced complete fern genomes for the first time, to learn why the plants have twice as much DNA as humans. By Oliver Whang Humans, like many complex organisms, have large genomes, ...