Chromosomal Abnormalities

How relationships influence health

For three years, Whitney Dafoe's world has been a darkened room at the end of a hallway in the back of his childhood home. An insidious disease, one with no known cause or cure, has slowly stolen his life from him, turning ...

May 17, 2016
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Novel syndrome resulting from multiple genomic lesions

Although genomic testing can be useful for clinical diagnosis, most patients have no obvious genomic changes despite a strong indication of a genetic condition. In a paper published in the March issue of Cold Spring Harbor ...

Mar 01, 2016
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Venclexta approved for specific genetic blood cancer

(HealthDay)—Venclexta (venetoclax) has been approved by the U.S. Food and Drug Administration to treat chronic lymphocytic leukemia (CLL) characterized by a specific chromosomal abnormality called the 17p deletion.

Apr 11, 2016
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Making sense of a miscarriage

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Mar 01, 2016
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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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