Chromosomal Abnormalities

Genome sequencing illuminates rare Aicardi syndrome

As my inbox fills with ever more updates on the number of human genomes sequenced and the plummeting time and cost of next next next generation sequencing, I find myself hitting delete more and more often. Instead, I'm drawn ...

Jul 02, 2015
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Discovery may lead to targeted melanoma therapies

Melanoma patients with high levels of a protein that controls the expression of pro-growth genes are less likely to survive, according to a study led by researchers at Icahn School of Medicine at Mount Sinai and published ...

Jun 17, 2015
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Study redefines brain tumor diagnosis and treatment

Not all brain cancers are the same but together they represent a deadly disease that has been difficult to identify and treat. Scientists at multiple institutions have found a new way of classifying brain cancers that could ...

Jun 10, 2015
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A chromosome anomaly, abnormality or aberration reflects an atypical number of chromosomes or a structural abnormality in one or more chromosomes. A Karyotype refers to a full set of chromosomes from an individual which can be compared to a "normal" Karyotype for the species via genetic testing. A chromosome anomaly may be detected or confirmed in this manner. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. There are many types of chromosome anomalies. They can be organized into two basic groups, numerical and structural anomalies.

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