Genetic and Medical Glossary

short region of a chromosome attached to the centromere at the top end and the telomere at the other; contains bands of genes numbered from the centromere out

unusually thick convolutions of the cerebral cortex

distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean; decreased length of the hard palate

height of the palate more than 2 SD above the mean; palatal height at the level of the first permanent molar more than twice the height of the teeth

soft palatal defect with intact overlying mucosa comprising two of the following three findings: (1) notching of the posterior border of the hard palate, (2) bifid uvula, or (3) muscular diastasis leading to a midline translucent zone or furrow in the soft palate

chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12; symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, a broad nasal bridge with a highly arched palate, and streaks of skin lacking color; intellectual impairment and loss of muscle tone are common

absence of a major crease of the palm (distal transverse crease, proximal transverse crease, or thenar crease)

scaphoid space or outline formed by eyelid margins when the eye is open

inclination is more than 2 SD below the mean for age

inclination is more than 2 SD above the mean for age; may be associated with microcephaly

abnormal reduction in the number of red blood cells, white blood cells, and blood platelets in the blood

an inversion of a chromosome’s sequence that does not involve the centromere, taking place on a single arm of the chromosome

unfounded or exaggerated distrust of others, sometimes reaching delusional proportions

essential or functional elements of an organ

inconstant foramen in the parietal bone occasionally found bilaterally near the sagittal margin posteriorly; when present it transmits an emissary vein to the superior sagittal sinus

sudden attack or increase of symptoms of a disease

occurs when only a part of a chromosome attaches to another

genetic disorder in which there is an extra copy of chromosome 13; generally causes malformed, low set ears, severe intellectual impairment, kidney and heart defects, and microcephaly. Mortality is high

congenital heart in which the ductus arteriosus does not close

hole between the left and right atria (upper chambers) of the heart that did not close before birth

altered or caused by disease; indicative of disease

protrusion of the sternum

inward malformation of the sternum

diagrammatic representation of a family health history or family health tree

autosomal recessive non-aneuploidic condition with some clinical features similar to that of trisomy 18; most often it is lethal

the extent to which a particular gene or set of genes is expressed in the phenotypes of individuals carrying it, measured by the proportion of carriers showing the characteristic phenotype

an inversion of a chromosome’s sequence involving the centromere

brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface; X-linked dominant disorder mapped to FLN1gene; females display borderline mental retardation, epilepsy of variable severity, and extra-central nervous system signs, especially cardiovascular defects or coagulopathy

presence of an unusually high plantar arch

arch of the foot is in contact with the ground or floor when the individual is standing

congenital eye disorder in which development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens

autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system and dark skin discolorations, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area, and inside the mouth

bones of the fingers and toes

chromosomal disorder in which a portion of the long arm (q) of chromosome 22 is missing; characterized by low muscle tone, normal to accelerated growth, absent to severely delayed speech, moderate to profound intellectual impairment, and minor dysmorphic features

the physical appearance or biochemical and physiological characteristics of an individual, which is determined by both heredity and environment

absence of the usual parallel position of philtral ridges

vertical groove in the midline portion of the upper lip bordered by two lateral ridges or pillars

accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border

distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean; increased distance between nasal base and midline upper lip vermilion border; length of philtrum usually shows accompanied by a short nose

persistent, abnormal, and unwarranted fear of sound

Patchy absence of the pigment of scalp hair, giving a streaked appearance

congenital anomaly characterized by an unusually small lower jaw (micrognathia), downward displacement of the tongue (glossoptosis), and occasionally, cleft palate

part of the ear that projects like a little wing from the head

characterized by severe intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features and caused by mutations in the TCF4 gene on chromosome 18 at 18q21.1

asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to a rhomboid cranial shape

presence of supernumerary (extra) nipples

autosomal recessive genetic disorder caused by mutations of the PKHD1 gene located on chromosome 16 at 16p13.3 and characterized by the formation of fluid-filled sacs (cysts) in the kidneys; additional organ systems may be affected, especially the liver; high blood pressure (hypertension), excessive thirst, frequent urination and feeding difficulties may also occur

a genetic disorder where the embryo develops extra fingers or toes

presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly

hand or foot with more than five digits that has a recognizable A/P axis of symmetry

developmental anomaly of the brain marked by development of numerous small convolutions (microgyri), causing cognitive impairment

the presence of many different alleles for a particular locus in individuals of the same species

a cell or organism that possesses multiple sets of chromosomes

condition characterized by the presence of numerous polyps

pertaining to or situated behind the axis of the body, especially the posterior side

presence of a supernumerary digit that is not a hallux (big toe)

toward the back or denoting the back surface of the body

ring-like opacity at the margin of the cornea in the eye

caused by duplication on chromosome 17p11.2; wide range of developmental and motor issues; strong association with Charcot-Marie-Tooth disease

disorder that affecting development of the bones, brain, and other organs, characterized by the growth of exostoses, enlarged parietal foramina, intellectual disability, delayed development of speech, motor and social skills, and distinctive facial features; caused by deletions on the short (p) arm of chromosome 11 at 11p11.2

kidneys fail to develop properly, causing lack of amniotic fluid (oligohydramnios) that, in turn causes pressure of the uterine wall which leads to an unusual facial appearance and stops development of the lungs; can also lead to abnormal limbs

imprinting chromosomal disorder caused by mutation of chromosome 15 in the region of 15q11.2-q13 on the paternal side (mutation of this region on the maternal side causes Angelman syndrome); characterized by low muscle tone and poor feeding in infancy and an insatiable appetite as the child grows; varying degrees of cognitive impairment are common

Small indentation in front of the ear opening

Situated in front of or superior to the median axis of the body or a body part

Duplication of all or part of the first ray

low birth weight when born at term

testing that is done during pregnancy to examine the chromosomes or genes of a fetus to detect the presence or absence of a genetic disorder

the percentage of people in a given population that are affected by a disorder at that particular time

affected person whose disorder, or concern about the disorder, brings a family or pedigree to be genetically evaluated

fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline; has a single cavity and may be found in association with a malformed nose and absence of one or both nares

the individual in a human pedigree who is the focus of the pedigree, usually by being the first person who came to the attention of the geneticist

another term for forebrain

a biological molecule composed of amino acids linked together by peptide bonds; used as structural components of the cell or as enzymes; the term “protein” can refer to a single chain of amino acids or to multiple chains of amino acids functioning in a concerted way

situated nearer to the center of the body or the point of attachment

Of or relating to movement or muscular activity associated with mental processes

wing–like triangular membrane between the torso and upper arm in the armpit area

redundant neck skin

upper eyelid lid margin is positioned 3mm or more lower than usual and covers the superior portion of the iris; upper lid margin obscures at least part of the pupil; reduction in eyelid opening that is not fixed but can be increased actively or passively

Sexual development before the age of eight in girls, and age 10 in boys

incomplete development of the lungs, resulting in an abnormally low number or size of bronchopulmonary segments or alveoli

condition in which the pulmonary valve is too tight, so that the flow of blood from the right ventricle of the heart into the pulmonary artery is impeded

either of the nitrogenous bases adenine or guanine; used in the structure of nucleic acids

Relating to the renal pelvis and calices

dilation of the renal pelvis

abnormal narrowing of the valve at the outlet from the stomach, preventing normal passage of food into the small intestine

any of the nitrogenous bases cytosine, thymine, or uracil; used in the structure of nucleic acids