Unlike simple mendelian disorders caused by highly penetrant ... in circumstances where well-defined mendelian traits or chromosomal aberrations have served as clues for uncovering general disease ...

Taken together, these banding techniques offer clinical cytogeneticists an arsenal of staining methods for diagnosing chromosomal abnormalities in patients. In order to maximize the diagnostic ...

A woman got routine bloodwork during her second pregnancy and was shocked when the test results came back: It suggested her ...

There are many syndromes associated with recurrent fetal loss, including anatomic anomalies, endocrine/hormonal abnormalities, genetic/chromosomal abnormalities, and blood coagulation protein ...

The biological factory that produces reproductive cells has a robust quality control system to identify and eliminate eggs ...

However, sometimes the imbalance in the chromosome counts isn’t striking enough to flag as a positive test, even when the baby does have a chromosomal abnormality. This is what is called a ...

Could two pieces of a stone mosaic ever be identical? Of course, the answer is no--and each stone’s variation subtly contributes value to the finished work. Why should your cells be any ...

The study's findings have implications for early detection and prevention of breast cancer, suggesting that chromosomal ...

Prenatal cell-free DNA (cfDNA) screening during pregnancy is a non-invasive blood test used to look for genetic variations early in pregnancy, particularly for chromosomal abnormalities like Patau ...

In recent years, more women are choosing to delay motherhood until their mid-30s or later. Career ambitions, financial ...

DENVER -- Genetic testing and algorithms revealed that over 1% of more than 96,000 blastocyst-stage embryos had ploidy ...