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 ...

Microarray analysis identifies more chromosome abnormalities than traditional karyotyping in prenatal testing. Microarrays will also identify findings of unclear clinical significance that should ...

Reference and Subject Material: XXX femalesPP/SRA/A/1 Reference and Subject Material: XXY malesPP/SRA/A/2 Reference and subject material: XYY boysPP/SRA/A/3 This section comprises Dr Ratcliffe's ...

Shares of biopharmaceutical company Soleno Therapeutics, Inc. (SLNO) were in the spotlight on Monday after the company ...

It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region ... are found in 85-90% of those with the clinical phenotype and all interfere with UBE3A expression.

Haemophilia is rare, but for its victims, ignorance is a barrier. Early diagnosis driven by genetic data can allow patients ...

Researchers from the Department of Pathology, School of Clinical Medicine at the LKS Faculty of Medicine of the University of ...

Molecular genetic analysis was performed in 42 subjects and has identified maternal uniparental disomy of chromosome 7 in four. The phenotype was generally milder ... which provides support for ...

Autism's history is filled with misconceptions. Understanding the science helps us move past outdated myths, support autistic ...

Soleno Therapeutics has won US Food and Drug Administration (FDA) approval for diazoxide choline – which will be branded as Vykat XR – to treat extreme hunger in patients with Prader-Willi syndrome.

Researchers have made significant advancements in understanding the earliest stages of stomach cancer, a leading cause of cancer-related deaths worldwide, through two recent innovative studies. With a ...