Chromosomal Abnormalities

Medical mystery solved in record time

In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a day's work. In record-time detective work, the scientists narrowed down the genetic cause of intellectual disability in ...

Apr 17, 2017
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When sex development goes awry: Is it a girl or a boy?

Few conditions underscore the importance of bedside manner quite like differences and disorders of sex development (DSD). Doctors faced with DSD patients must collaborate to recommend tailored and timely management plans ...

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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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