A TEEN who’s been diagnosed with melanoma twice and had two brain tumours removed, all before the age of 18, has a rare ...

While direct transmission of chromosomal duplications (and deletions) is well described, this is the first report of a cytogenetically detectable chromosome duplication associated with phenotypic ...

A CHROMOSOME deletion is a type of mutation that occurs when a section of a chromosome is lost. Symptoms of chromosomal deletion syndromes vary depending on the chromosome that is deleted and ...

Joanne was diagnosed with autism and chromosomal deletion syndrome. She is also non-verbal and partially deaf. For Dr Yoon, who was working as an artist, raising a child with complex disabilities was ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

NGS, with its ability to analyze the nature of genetic variations in detail, evaluates through detailed sequencing without missing a single base, thereby allowing for the accurate identification of ...

where a deletion leads to loss of PCR primer-binding site(s) or a large insertion makes the PCR product too long to be amplified. In conclusion, by taking advantage of long reads, low-coverage ...

Researchers say study represents a resource that could also help to dissect Y-gene functions in other tissues.

VCFS and Bipolar Disorders. "Bipolar Spectrum Disorders in Patients Diagnosed With Velo-Cardio-Facial Syndrome: Does a Hemizygous Deletion of Chromosome 22q11 Result in Bipolar Affective Disorder?" ...