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GLOSSARY OF TERMS

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History/Background | Family Stories | Contact Us | GLOSSARY OF TERMS | WOLF-HIRSCHHORN SYNDROME (4P-) | CHROMOSOME 4 RING | CHROMOSOME 4, PARTIAL TRISOMY DISTAL 4q | Chromosome 4, Monosomy 4q | Chromosome 4, Trisomy 4p | Pitt-Rogers-Danks Syndrome | In Memory of our Children
Priority 4 Families Support Group

Here you will find some of the terms associated with Chromosome 4 Adnormalities



Glossary:

ASPIRATION - liquid or food breathed into the lungs

ATRIAL SEPTAL DEFECT - a hole between the two upper chambers of the heart which makes it difficult for the heart to pump sufficient oxygen-rich blood to the body's tissue; a heart murmur can often be heard

AUDITORY BRAINSTEM-EVOKED RESPONSE - a test to determine if the hearing system can transmit information about sound to the brain. Sometimes abbreviaed as ABR or ABER

AUTOSOME - one of the numbered, non-sex chromosome

CHORIONIC VILLUS SAMPLING - a test used to diagnose chromosomal abnormalities prenatally.

CHROMOSOME - a very small, piece of dark-staining material with the cell, made up of DNA (deoxyribonucleic acid) and proteins, which "carry" the genes

CLEFT LIP AND/OR PALATE - a gap in the soft palate and roof of the mouth, sometimes extending through the upper lip and nostril

CLINODACTYLY - incurving, usually of fifth fingers

COLOBOMA - defect of the eyelids, iris or the optic nerve

CONGENITAL - present at birth

DE NOVO - spontaneously producing a chromosomeal pattern that did not exist in the parents

DERMATOGLYPHICS - ridged patterns of the fingers, palms, toes, and soles of the feet; unusual patterns may suggest a syndrome

DEXTROCARDIA - heart is shifted toward the right, or is formed in a mirror image of the normal heart

DYSMORPHIC - abnormal or impaired form or structure of a body part

FISH - fluorescent in situ hybridization. A special chromosome test to check for very small changes not detectable by "regular" chromosome tests.

GE (gastro-esophageal) reflux - splashing or rising of food and stomach acids from the stomach up into the esophagus. It creates a burning sensation (heartburn) and can be very painful. Aspiration and consequent pneumonia are a frequent complication of GE reflux

GASTROSTOMY - an artificial opening into the stomach for feeding purpose

GAVAGE - a method of feeding the child through a tube inserted through the nose and into the stomach

HYPERTELORISM - wide space between the eyes

HYPOSPADIAS - congenital abnormality in which the male child's urethra (tube leading from the bladder) opens on the underside of the penis or in the scrotum

HYPOTONIA - low muscle tone

INFANTILE SPASM - seizure disorder in infants with motor spasms or other convulsive signs. Infants may go into a "jack-knife" positon

KARYOTYPE - the image of a set of chromosomes arranged in a standardized order.

KYPHOSIS - a curvature of the spine causing hunching of the back

MICROCEPHALY - a condition in which the head is abnormally small

MICROGNATHIA - unusually small jaw or chin

MOMOSOMY - a cell that contains one less than the normal number of chromosomes because of the loss of a single member of a chromosome pair

MYOCLONIC SEIZURE - brief, sudden contaction of a part of the body that ends as quickly as it begins

NISSEN-HILL FUNDOPLICATION - a surgical procedure which creates a functioning valve at the bottom of the esophagus by "wrapping" the top of the stomach around the esphagus. The prevents the stomach contents from sloshing into and up the esophagus

PATENT DUCTUS ARTERIOSUS - a heart duct which normally closes soon after birth remains open. Failure of the duct to close after birth results in an abnormal dirention of blood flow

POSTICTAL PHASE - phase at the end of a seizure, characterized by disorientation and depression of central functions (sleepiniess)

PROMINENT GLABELLA - an unusual bump on the forehead above the nose

PULMONARY STENOSIS - congenital narrowing of the outlet of the right ventricle of the heart to the pulmonary artery

SCOLIOSIS - a lateral or side-to-side

STATUS EPILEPTICUS - prolonged, uncontrolled seizures; may be fatal without medical intervention

TONIC-CLONIC SEIZURE - generalized seizure with major convulsions, unusally a sequence of maximal tonic spasm of all body musculature followed by clonic jerking and prolonged depression of all central functions

TRANSLOCATION - attachment of part of all of one chromosome to another chromosome; in some cases pieces of chromosomes "trade places"

TRISOMY - three copies of a particular chromosome, rather than the ususal pair, are present in body cells

UNBALANCED TRANSLOCATION - extra and/or missing chromosome material due to a rearrangement. This may be inherited from a parent who has a balanced translocation

VENTRICULAR SEPTAL DEFECT - a hole between the two lower chambers of the heart which prevents the heart from pumping blood correctly; a heart murmur is generally heard with this congenital defect

VESICOURETERAL REFLUX - a condition characterized by the backflow of urine from the bladder into one or both ureters and sometimes into the kidneys, instead of passing out of the body