Genetic and Medical Glossary

the abbreviation for adenine, a purine nitrogenous base found in the structure of both DNA and RNA

characteristic that deviates from the norm

absent eyelids

also known as twin reversed-arterial perfusion (TRAP) sequence; rare and serious pregnancy complication in which blood is delivered from one twin (“pump” twin) to the other twin (“acardiac” twin) by retrograde (backward) flow, meaning that blood is being pumped from the pump twin to the acardiac twin which is depleted of oxygen

a chromosome that does not have a centromere and that is unable to participate properly in cell division; often the result of a chromosomal mutation during recombination

characterized by the association of acral, ocular and renal defects; acral anomalies are defects of the radial ray varying from mild hypoplasia of the distal part of the thumb with limitation of motion at the interphalangeal joint to severe thumb hypoplasia and preaxial polydactyly (thumb duplication), sometimes associated with syndactyly of fingers; renal anomalies vary from mild malrotation to crossed renal ectopia with partial horseshoe anomaly; ocular features include coloboma of the optic nerve, ptosis, and/or Duane anomaly

a chromosome with its centromere near one end; includes chromosomes 13, 14, 15, 21 and 22 which all have their centromere very close to the outer tip; they have very short p arms and small round appendages on stalks, called ‘satellites’

turricephaly (tall head) with the top of the skull assuming a cone shape

absence of all phalanges of all digits of a limb and associated soft tissues

Hirschsprung’s disease

absence of

partial or complete absence of the area of the brain that connects the two cerebral hemispheres; can be inherited as an autosomal recessive trait, an X-linked dominant trait, or be caused by an infection or injury during the twelfth to twenty-second week of pregnancy

notch in the margin of the ala nasi of the nose

congenital inability to produce tears

rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys; common symptoms usually develop during the first three months of life and include blockage of the flow of bile from the liver (cholestasis), yellowing of the skin and mucous membranes (jaundice), poor weight gain and growth, severe itching (pruritis) and pale, loose stools

genetic condition characterized by short stature, bone and tooth abnormalities and cognitive/behavioral problems

•9p Deletion Syndrome, usually where the breakpoint is found at 9p22; patients usually have various craniofacial abnormalities, globalized hypotonia (low muscle tone)/delayed gross motor development, seizures, GERD, constipation, cardiac defects, scoliosis, kidney reflux and/or sleep disorders

a form of a gene at a locus (site); each locus in an individual’s chromosomes has two alleles, which may be the same or different

complete lack of separation between the right and left halves of the forebrain

part of the gene cluster located on chromosome 16 spanning about 30 kb; deletion of both genes causes alpha thalassemias

blood disorder that reduces the production of hemoglobin, the protein in red blood cells that carries oxygen to cells throughout the body; common symptoms include mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice)

protein made by the fetus and found in the mother’s blood circulation; high level of AFP, either in the mother’s blood or in amniotic fluid may be associated with the presence of neural tube defects or chromosomal problems in the baby

life-threatening disorder of newborns in which the normal diffusion process of oxygen from the air sacs to the blood in the lungs (and then to the heart) fails to develop properly; pulmonary vein is malpositioned in a site somewhat different from its normal position

external sexual organs that are not clearly male or female

a procedure in which a small amount of amniotic fluid containing fetal cells is withdrawn from the amniotic sac surrounding a fetus; fetal cells, found in the fluid, are then tested for the presence of genetic abnormalities

constricted strands of the fluid-filled sac (amniotic sac) that surrounds a baby in the womb that can cause a congenital deformity of the face, arms, legs, fingers, or toes

congenital absence of an opening at the bottom end of the intestinal tract; also called imperforate anus or anorectal atresia

neural tube defect characterized by the failure of the cerebral hemispheres of the brain and the cranium to develop normally

a cell or individual with one or more missing or extra chromosomes

chromosomal disorder that is inherited from the mother (imprinting) and caused by deletion or abnormal expression of the UBE3A gene on chromosome 15; characterized by severe developmental delays and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulous jerky movements of the arms and legs; patients have a characteristic happy disposition with unprovoked episodes of laughter and smiling—hence, the term “happy puppet syndrome”

partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue

short or anteriorly attached lingual frenulum associated with limited mobility of the tongue

abnormal stiffening and immobility of a joint due to fusion of the bones

abnormal ring of pancreas that encircles the duodenum and often causes intestinal obstruction

congenital absence of all primary or permanent teeth

marked deviation from normal, especially as a result of congenital or hereditary defects

absence of the eye, as a result of a congenital malformation

loss of the sense of smell, either total or

complete absence of any auricular structures, absent ear

front to back direction

frontal

medication to control seizures

an immune protein (immunoglobulin) that is produced by B cells of the immune system and specifically recognizes an antigen

genetic condition that becomes more severe and/or arises at an earlier age as it is passed through subsequent generations (seen in some trinucleotide repeat mutations)

any molecule that is capable of being recognized by an antibody molecule or of provoking an immune response

a term referring to any strand of DNA or RNA that is complementary to a coding or regulatory sequence

condition characterized by either partial or total loss of the ability to communicate verbally or to use or comprehend words

underdeveloped; defective development or congenital absence of a limb, organ

absent foot

congenital absence of the telencephalon and diencephalon parts of the forebrain

long spider-like fingers and toes, a frequent finding in Marfan syndrome

benign cysts that occur in the cerebrospinal axis in relation to the arachnoid membrane and that do not communicate with the ventricular system

congenital absence of the olfactory bulbs, tract or nerves

type of technology that allows detection of chromosome imbalances that too small to be detected through a microscope; works by exploiting the ability of a DNA molecule (or strand) to bind specifically to, or hybridize to, another DNA molecule (strand)

joint contractures that develop before and are evident at birth

the loss of full muscle control of bodily movements

16p11.2 deletion syndrome; characterized by developmental delay, intellectual disability, and usually features of autism spectrum disorders

absence or abnormal narrowing of an opening or passage in the body

of, relating to, or marked by atresia

congenital (present at birth) disorder of the heart in which infants have a hole in the wall (septum) that separates the two upper-chambers (atria) of the heart

congenital (present at birth) disorder of the heart in which infants have improperly developed atrial and ventricular septa and adjoining valves

wasting away or decrease in size of an organ or tissue in the body

any of a range of behavioral disorders occurring primarily in children, including such symptoms as poor concentration, hyperactivity, and impulsivity

developmental disorder that appears by age three and that is variable in expression but is recognized and diagnosed by impairment of the ability to form normal social relationships, by impairment of the ability to communicate with others, and by stereotyped behavior patterns especially as exhibited by a preoccupation with repetitive activities of restricted focus rather than with flexible and imaginative ones

an immune response of an organism against its own cells

part of the nervous system that regulates key involuntary functions of the body, including the activity of the heart muscle; the smooth muscles, including the muscles of the intestinal tract; and the glands

the numerical chromosomes (chromosomes 1-22); humans have forty-four —one set from each parent; chromosome 1 is the largest and 22, the smallest

eye disorder characterized by abnormalities of the front part of the eye (anterior segment) in which the colored part of the eye (the iris) may be thin or poorly developed

wing–like triangular membrane between the chin and neck