Chromosomal Abnormalities

Breakthrough for IVF?

Elsevier today announced the publication of a recent study in Reproductive BioMedicine Online on 5-day old human blastocysts showing that those with an abnormal chromosomal composition can be identified by the rate at whic ...

Obstetrics & gynaecology created May 16, 2013 | popularity not rated yet | comments 0

Geneticists find causes for severe childhood epilepsies

(Medical Xpress)—Using a state-of-the-art DNA sequencing technique, UA researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.

Neuroscience created May 07, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Three cancer scientists awarded $500K Nmedical prize

Three scientists at universities in Pennsylvania, Illinois and Oregon whose research has helped transform cancer treatment will share one of the richest prizes in medicine and biomedical research.

Cancer created Apr 16, 2013 | popularity 5 / 5 (2) | comments 0

Sampling of embryonic DNA after IVF without biopsy

New study published in Reproductive Biomedicine Online shows that fluid-filled cavity in 5-day old human blastocysts may contain DNA from the embryo, allowing diagnosis of genetic disease without a biopsy

Medical research created Apr 02, 2013 | popularity not rated yet | comments 0

High mortality, morbidity with early-onset scoliosis surgery

(HealthDay)—Surgery for patients with early-onset scoliosis is associated with an 18 percent mortality rate and an 84 percent complication rate, according to research published in the Feb. 15 issue of Spine.

Surgery created Mar 25, 2013 | popularity not rated yet | comments 0

A new mechanism that contributes to the evolution of cancer

Cancer arises from the accumulation of mutations and structural changes in chromosomes, which in some cases give rise to combinations that favour the growth or expansion of the disease. In this context, chromosomes tend to ...

Cancer created Jan 31, 2013 | popularity 5 / 5 (1) | comments 0

Gene sequencing project mines data once considered 'junk' for clues about cancer

Genome sequencing data once regarded as junk is now being used to gain important clues to help understand disease. The latest example comes from the St. Jude Children's Research Hospital – Washington University Pediatric ...

Cancer created Jan 24, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Study points to a safer, better test for chromosomal defects in the fetus

A noninvasive, sequencing-based approach for detecting chromosomal abnormalities in the developing fetus is safer and more informative in some cases than traditional methods, according to a study published ...

Genetics created Jan 10, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Intensified chemotherapy shows promise for children with very high risk form of leukemia

Young patients with an aggressive form of leukemia who are likely to relapse after chemotherapy treatment can significantly reduce those odds by receiving additional courses of chemotherapy, suggest the findings of a clinical ...

Cancer created Dec 10, 2012 | popularity not rated yet | comments 0

A better early blood test for autism: Genetic signatures point to disrupted neuro-immune pathways

(Medical Xpress)—Researchers at Boston Children's Hospital have developed a blood test for autism spectrum disorders (ASDs) that outperforms existing genetic tests, while presenting evidence that abnormal ...

Autism spectrum disorders created Dec 10, 2012 | popularity 4 / 5 (3) | comments 1 | with audio podcast

Positive early results in clinical trial of leukaemia vaccine

Early results of a trial to treat leukaemia with a WT1 DNA vaccine, has shown robust vaccine-specific antibody responses in all vaccinated patients evaluated to date.

Cancer created Dec 07, 2012 | popularity 5 / 5 (1) | comments 0

Researchers find new genetic pathway behind neurodevelopmental disorders

Researchers at the Douglas Mental Health University Institute, have discovered a new genetic process that could one day provide a novel target for the treatment of neurodevelopmental disorders, such as intellectual disability ...

Genetics created Dec 06, 2012 | popularity 5 / 5 (2) | comments 0

New prenatal test, chromosomal microarray, proposed as standard of care

A large, multi-center clinical trial led by researchers from Columbia University Medical Center (CUMC) shows that a new genetic test resulted in significantly more clinically relevant information than the current standard ...

Obstetrics & gynaecology created Dec 05, 2012 | popularity not rated yet | comments 0 | with audio podcast

Unexplained intellectual disability explained by state-of-the-art genetic analysis

A research team reported that next generation sequencing of the exome, the 1 to 2% of the DNA containing the genes that code for proteins, enabled the identification of the genetic causes of unexplained intellectual disability ...

Genetics created Nov 08, 2012 | popularity 4 / 5 (3) | comments 0

New assessment reveals value of second embryo biopsy for women of advanced maternal age

An elegant new study confirms that the most commonly used method of screening for embryo abnormalities following in vitro fertilization (IVF) does accurately predict the success of embryo transplantation for younger women, ...

Obstetrics & gynaecology created Nov 07, 2012 | popularity not rated yet | comments 0 | with audio podcast


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.

This text uses material from Wikipedia and is available under the GNU Free Documentation License.

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