Amniocentesis - A procedure in which a small amount of amniotic fluid is removed from the mother's womb in order to detect abnormalities of the fetus

Atria - The two upper chambers of the heart

Atrial Septal Defect (ASD) - A hole or defect in the wall between the two upper chambers of the heart

Autosomal Dominant - A term describing a gene on any chromosome other than the sex chromosomes that produce its effect whenever it is present; can also describe the effect of the gene itself

Autosome - One of the 22 pairs of chromosomes other than the sex chromosomes

B Cells - Cells in the body which make antibodies; their job is to kill germs such as viruses, fungi, and bacteria

Birth Defect - A health problem present at birth

Calcium - A plentiful mineral in the body and the basic component of teeth and bones; essential for cell function, muscle contraction, transmission of nerve impulses, and blood clotting

Carrier Testing - Testing performed to determine whether a person carries one of an altered gene for a particular disease.

Chromosome - A structure in the nucleus of cells which contains genes

Cleft - Opening

Cleft Lip - Failure of the lip to close during development; open lip

Cleft Palate - Opening of the roof of the mouth

Congenital - Present at birth

Congential Anomaly - A health problem present at birth

De Novo - New, not present previously
Deletion - When a part of a chromosome is missing, or part of the DNA code is missing

DNA - Deoxyribosenucleic Acid, the chemical that makes up our genes

Dysphagia - Feeding difficulties

Echocardiogram - An ultrasound of the heart

Fluorescence In Situ Hybridization (FISH) - A laboratory test used to identify extra or missing pieces of chromosomes.

Gene - A segment of DNA that produces a protein product

Genetic - Determined by genes or chromosomes

Genetic Counselling - Providing an assessment of hertiable risk factors and information to patients and their relatives concerning the consequences of a disorder, the probability of developing or transmitting it, and ways in which it can be prevented, treated or managed.

Genotype - The genetic makeup of an individual; what genes are actually present in a person

Hypoparathyroidism - Under-activity of the parathyroid glands, causing low blood calcium (hypocalcemia)

Hypothyroidism - Under-activity of the thyroid gland, causing tiredness, cramps, a slowed heart rate, and possibly weight gain

Hypocalcemia - Low blood calcium levels that may cause tremors, muscle spasms (tetany), seizures, vomiting, and abnormal rhythms of the heart

Hypoplastic Kidney - A small and underdeveloped kidney

Karyotype - A picture of the 46 chromosomes, lined up into 23 pairs

Microdeletion - The loss of a tiny piece of a chromosome so small that is is not detectable by a regular microscope

Nasal Regurgitation - Fluid coming through the nose
P Arm - The short arm of the chromosome

Pedigree - A diagram of a family tree indicating the family members and their relationship to the person with the inherited disorder

Phenotype - The visible expression of a gene

Platelet - Blood cell which assists in blood clotting; throbocyte

Posterior Pharyngeal Flap (PPF) - A surgical procedure to correct Velopharyngeal Insufficiency (VPI)

Q Arm - The long arm of the chromosome

Renal - Related to the kidneys

Scoliosis - Curvature of the spine

Seizure - A sudden loss of consciousness resulting from abnormal electrical activity in the brain

Sex Chromosomes - The X and Y chromosomes that determine a person's gender; women normally have two X chromosomes and men normally have one X and one Y chromosome

Syndrome - A collection of traits, health problems, and / or birth defects in an individual which usually has an underlying cause

T Cells - Cells in the body which are protectors against infection; they include killer, helper and suppressor cells

Thrombocytopenia - Presistent Low Blood platelets

Thymus - A gland in the chest which is involved in immune function

Thyroid - A gland located in the front of the neck below the voice box that plays an important role in metabolism (the chemical processes in the body) and growth; the gland produces thyroid hormones

Ultrasound - The use of sound waves to produce an image of an organ inside the body

Velum - Soft Palate - rear portion of the "roof of the mouth"

Ventricles - The lower 2 chambers of the heart

Ventricular Septal Defect (VSD) - A hole in the wall separating the two lower chambers of the heart

Velopharyngeal Insufficiency (VPI) - Failure of the palate to meet the throat (pharynx) during crying, swallowing and speech; often results in hypernasal speech and nasal regurgitation