Genetics Northern California


EchogenicA structure that is capable of producing echoes on an ultrasound. These areas appear visibly similar to bone (i.e., bright white) on an ultrasound picture, representing calcification - i.e., echogenic bowel or echogenic intracardiac focus. May represent increased risk of a genetic abnormality in the fetus (e.g Down syndrome).

Estimated date of confinement. Also known as EDD; estimated date of delivery. The expected delivery date of a pregnancy.


Electroencephalogram. A recording of the brain waves.


In molecular biology, a method of separating large molecules such as DNA fragments or proteins from a mixture of similar molecules.

ElliptocytosisCondition of increased numbers of elliptocytes (oval-shaped red cells >15% in anemia and hereditary elliptocytosis).

In humans, the developing organism from the end of the second week after fertilization to the end of the eighth week.


Electromyogram. A recording of muscular activity during rest, during voluntary contractions, and during electrical stimulation.


A neural tube defect that occurs when there is an opening in the bones of the skull through which brain tissue protrudes.


A protein that facilitates a specific chemical reaction.

ErythropoeisisFormation of red blood cells.

A cell having any number of complete chromosome sets or an individual composed of such cells.


A transcribed region of a gene that is present in mature messenger RNA. The region(s) of the gene coding for proteins.


In relation to autosomal inheritance, a term referring to the extent to which a genetic condition is expressed. If there is variable expressivity, the trait may vary in expression from mild to severe but it is never completely unexpressed, i.e., an individual will have some symptoms but they can vary from mild to severe.