JA Rosenfeld is an employee of Signature Genomic Laboratories, a subsidiary of PerkinElmer, Inc. The authors have no other relevant affiliations or financial involvement with any organization or ...

The spectrum of information that can be obtained by prenatal testing is wide and rapidly increasing. Many mutations, or "abnormalities," are inconsequential, while others are significant. Genetic ...

Non-invasive Preimplantation Genetic Testing for Aneuploidy is a novel technique used in in-vitro fertilisation to assess the chromosomal makeup of embryos without removing cells for biopsy. The ...

The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in ...

Around 1 in 500 men carry an extra X or Y chromosome, according to a large study published this week in Genetics in Medicine. But most of those affected are unaware of their status, despite it ...

The current study shows that cells with additional chromosomes have an altered mitochondrial structure and function. The reason: mitochondrial precursor proteins are sequestered in p62-positive ...

The improper segregation of chromosomes during cell division leads to abnormalities that disrupt the proper functioning of the cell. Cells with an abnormal number of chromosomes consequently activate ...

In a study published in Genetics in Medicine, researchers analysed genetic data collected on over 200,000 UK men aged 40-70 from UK Biobank, a biomedical database and research resource containing ...

A microscopic piece of genetic material known as the Y chromosome made headlines last week. It is nothing new or rare; every man has one in practically every cell, or he would not be a man. But a few ...