22q and You Center

Glossary

When you have a child with a genetic disorder, such as a chromosome 22q11.2 deletion, you may hear lots of medical terms and other unfamiliar words. Here are definitions of some of the most common.

A B C D E F G H I J K
L M O P Q R S T U V  

 

A

adenoids: pads of immune tissue located behind the nose and nasal cavity.

alveolus: gums of the mouth.

amniocentesis: a way of checking a pregnancy to see if the fetus has some birth problems, including chromosomal disorders, biochemical disorders and gene abnormalities. A needle is inserted into the mother's abdomen and a small amount of amniotic fluid (containing amniotic cells) is removed for testing. The cells that contain the chromosomes are grown in the laboratory and then examined under the microscope. The test is performed around 16 weeks of pregnancy.

amniotic fluid: the liquid that surrounds a fetus in a woman's uterus.

ASD: atrial septal defect — a hole or defect in the wall between the two upper chambers of the heart. See also ventricular septal defect.

aspiration: when liquids or solids go into the lungs by mistake.

atria: the two upper chambers of the heart.

B

B cells: cells in the body that make immunoglobulins; their job is to kill germs, such as viruses, fungi and bacteria.

bilateral: affecting both sides of the body.

C

cardiac: having to do with the heart.

cardiologist: a doctor who specializes in diagnosing and treating heart problems.

cell: the smallest thing you can see under a microscope; contains chromosomes in the nucleus.

chromosomes: those entities in the body's cells that contain the genes. They are rodlike bodies which can be seen only under the microscope. They determine everything about us: how tall we are, our hair and eye color, etc.

cleft: opening

cleft lip: failure of the lip to close during development; open lip.

cleft palate: opening of the roof of the mouth.

clinical geneticist: a doctor who specializes in hereditary (genetic) diseases.

cognition: the process of perceiving, thinking, reasoning and analyzing.

communication skills: the ability to use language (receptive) and express (expressive) information.

congenital: a problem that exists at birth.

craniosynostosis: premature closure of the soft spots (fontanels) of the skull.

CVS: chorionic villius sampling; a method of checking a pregnancy to see if the fetus has some birth problems, including chromosomal disorders and gene abnormalities. A catheter is inserted into the mother's abdomen or cervix and a sample is withdrawn from the tissue (chorionic villi) where the placenta and uterus come together. The cells that contain the chromosomes are grown in the laboratory and then examined under the microscope. The test is performed around 12 weeks of pregnancy.

cyanosis: a bluish skin coloring caused by low oxygen in the blood.

D

development: the process of growth and learning during which a child acquires skills and abilities.

developmental delay: when learning and motor skills are slower than expected.

DNA: deoxyribonucleic acid; the molecule that carries hereditary traits (genes).

dysphagia: feeding difficulties.

E

ear tubes: also called myringotomy tubes, small tubes placed in the eardrum to allow fluid to drain from the middle ear.

ECG: electrocardiogram, a cardiac test that measures the heart's electrical impulses.

echocardiogram: an ultrasound of the heart.

endocrinologist: a physician who cares for patients with problems with the glands, such as the parathyroid gland, which controls the hormone that regulates calcium levels. An endocrinologist also specializes in growth (growth hormone) and manages diabetes.

ENT: ear, nose and throat doctor; also called an otolaryngologist.

epiglottis: structure that typically folds over the opening of the trachea (windpipe) to direct food down the esophagus and not into the lungs.

esophagus: "food pipe" — connects the mouth with the stomach.

expressive language: the ability to use gestures, words and written symbols to communicate.

F

fine motor: involving movements of the small muscles of the body, such as hands, feet, fingers and toes. See also gross motor.

FISH: fluorescence in situ hybridization — the laboratory test used to identify extra or missing pieces of chromosomal material that are often too small to detect under the microscope.

fontanels: the soft spots of the skull in babies.

G

genes: contained on the chromosomes, they determine everything about us: how tall we are, our hair and eye color, etc.

genetic: a problem which may "run in the family" — be present from one generation to another or occur in siblings or other relatives. May also occur as a "new mutation" — a gene that just changed in the one egg, one sperm, or the first cell of the baby.

genotype: the genetic makeup of an individual — what genes are actually present in a person.

GI system: gastrointestinal system, which facilitates food digestion. Includes the esophagus, stomach and intestines.

gross motor: involving movements of the large muscles of the body. See also fine motor.

H

hereditary: a problem that "runs in the family" — a genetic problem.

hypernasal: too nasal, too much air escaping through the nose.

hypothyroidism: decreased production of thyroid hormone by the thyroid gland.

hypotonia: low muscle tone.

I

IEP: individualized education program.

immunologist: physician who cares for children with problems involving the body's immune "defense" system.

infant stimulation: early intervention for young children.

intervention: providing therapies and other specialized programs to help children reach their fullest potential as quickly as possible.

IQ: intelligence quotient — a numerical measure of a child's intelligence or cognitive ability as determined by standardized tests.

J

JRA: juvenile rheumatoid arthritis.

K

karyotype: a picture of chromosomes.

L

language: the expression and understanding of human communication.

M

mainstream: involving children with disabilities in regular school and preschool environments.

microcephaly: small head size.

O

oral motor: use of the muscles in and around the face.

oral transport: phase in which food is pushed backward by the tongue through the pharynx.

ophthalmologist: medical doctor who specializes in the eyes.

OT: occupational therapist — a medical professional who works with patients to facilitate independence and wellness through functional activities.

otitis media: fluid in the middle ear behind the eardrum.

otolaryngologist: physician who specializes in ear, nose and throat problems. Also called an ENT.

P

P arm: the short arm of the chromosome, first described by the French; "p" stands for the French word "petite." See also q arm.

pharyngeal transfer: phase in which food is moved past the airway to the esophagus.

pharynx: the throat.

phenotype: the visible expression of a gene.

platelet: blood cell which assists in blood clotting — also called a thrombocyte.

pneumonia: lung inflammation as a result of infection.

PPF: posterior pharyngeal flap — a surgical procedure to correct VPI (velopharyngeal incompetence).

PT: physical therapist — a medical professional who specializes in improving the development of gross motor skills and overcoming physical problems, such as low muscle tone.

Q

Q arm: the long arm of the chromosome, first described by the French; so named because "q" follows "p" in the alphabet, and "p" stands for the petite (small) arm of the chromosome. See also p arm.

R

receptive language: the ability to understand spoken or written gestures and communications.

renal: pertaining to the kidneys.

S

scoliosis: curvature of the spine.

seizure: a sudden loss of consciousness resulting from abnormal activity in the brain.

septum: the wall of cardiac tissue between the chambers of the heart.

social skills: the ability to interact with other people and to function in groups.

special education: the education of children with disabilities.

spina bifida: congenital (present at birth) spine defect — an opening in the spine; spinal cord often protrudes out of the vertebrae, resulting in spinal cord injury.

standardized test: a test in which a child's performance is compared to the performance of other children the same age.

syndrome: a collection of findings (symptoms) that's seen repetitively from one patient to another.

T

T cells: cells in the body that help protect against infection; they include killer, helper and suppressor cells.

thrombocytopenia: persistent decrease in blood platelets, which aid in clotting.

thymus: a gland in the chest that's involved in immune function (fighting infection).

trachea: also called the "windpipe," connects upper airway (mouth and nose) to the lungs.

U

ultrasound: the use of sound waves to produce an image of an organ — e.g., kidneys, bladder, etc. — inside the body.

uvula: tissue that hangs in the back of the mouth.

V

velum: soft palate — rear portion of the roof of the mouth.

ventricles: the lower chambers of the heart.

vertebrae: the bones of the spinal column.

vocalizations: vocal sounds.

VPI: velopharyngeal incompetence - when the back of the palate and the throat fail to close the space connecting the mouth and nose during speech. Can allow for nasal regurgitation (fluid or solids coming up and out through the nose).

VSD: ventricular septal defect — a hole in the wall separating the two lower chambers of the heart. See also atrial septal defect.

Reviewed by: Donna M. McDonald-McGinn, MS, CGC
Date: May 2004

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