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

Scientists find that chromosomal abnormalities are associated with aging and cancer

(Medical Xpress) -- Two new studies have found that large structural abnormalities in chromosomes, some of which have been associated with increased risk of cancer, can be detected in a small fraction of people without a ...

Genetics created May 08, 2012 | popularity 4.8 / 5 (5) | comments 0 | with audio podcast

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

New method enables sequencing of fetal genomes using only maternal blood sample

Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

Genetics created Jul 04, 2012 | popularity 3.7 / 5 (3) | comments 0 | with audio podcast

Researchers discover new genes contributing to autism, links to psychiatric disorders

A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time. Several of these genes also appear to be altered in different ...

Autism spectrum disorders created Apr 19, 2012 | popularity 5 / 5 (4) | comments 0 | with audio podcast

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

Common form of autism recreated in a new mouse model

Over the past decade, new technologies have revealed that autism spectrum disorder has a substantial genetic component. But determining exactly which genes are involved has been like finding the proverbial needle in the haystack.

Genetics created Oct 05, 2011 | popularity not rated yet | comments 0 | with audio podcast

DNA test that identifies Down syndrome in pregnancy can also detect trisomy 18 and trisomy 13

A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The ...

Obstetrics & gynaecology created Feb 02, 2012 | popularity 5 / 5 (1) | comments 0

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

First evidence from humans on how alcohol may boost risk of cancer

Almost 30 years after discovery of a link between alcohol consumption and certain forms of cancer, scientists are reporting the first evidence from research on people explaining how the popular beverage may be carcinogenic. ...

Cancer created Aug 22, 2012 | popularity not rated yet | comments 0 | with audio podcast

A pack of walnuts a day keeps the fertility specialist away?

A paper published 15 August 2012 in Biology of Reproduction's Papers-in-Press reveals that eating 75 grams of walnuts a day improves the vitality, motility, and morphology of sperm in healthy men aged 21 to 35.

Obstetrics & gynaecology created Aug 15, 2012 | popularity 5 / 5 (2) | 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

Overweight mothers who smoke while pregnant can damage baby's heart

Mums-to-be who are both overweight and smoke during their pregnancy risk damaging their baby's developing heart, finds research published online in Heart.

Overweight and Obesity created Jan 30, 2012 | popularity not rated yet | comments 0

Kids with neurological conditions at higher risk of flu death: CDC

(HealthDay)—Children with neurologic disorders such as cerebral palsy, intellectual disability or epilepsy are at increased risk of dying from flu, a new study says.

Pediatrics created Aug 30, 2012 | popularity not rated yet | comments 0


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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