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 ...
There are 2 basic types of chromosomal imbalance: aberrations in chromosome numbers (numerical abnormalities) and defects in chromosome structure (structural anomalies). These can be diagnosed by ...
Many genes may be transferred between chromosomes. Such translocation mutations can cause disorders of growth, development, and function of the body's cells and systems. Human cell nuclei have 23 ...
Mosaicism has been linked to various pathologies including Turner syndrome, which is a chromosomal abnormality, and to various forms of cancer. Potential symptoms can also include cancer ...
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 ...