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 ...

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 ...

Our findings indicate a relationship between aberrant skin pigmentation and chromosomal mosaicism ... of patients who present with pigmentary abnormalities and associated malformations.

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

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

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

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 ...

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 ...

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