Biol564: Molecular Genetics Of Development, Exam 3

Front 1

craniosynostosis

Back 1

premature fusion of one or more cranial sutures, often resulting in an abnormal head shape.

Front 2

dysostosis

Back 2

defective formation of a bone

Front 3

saggital plane

Back 3

A sagittal plane of the human body is an imaginary plane that travels vertically from the top to the bottom of the body, dividing it into left and right portions.

Front 4

hypertelorism

Back 4

widely spaced eyes

Front 5

Exophthalmos

Back 5

protrusion of the eyeball from the socket

Front 6

strabismus

Back 6

abnormal alignment of one or both eyes

Front 7

prognathism

Back 7

an abnormal projection of the jaws

Front 8

ChiariI deformity

Back 8

Arnold-Chiari malformation is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen magnum

Front 9

acanthosis nigricans

Back 9

a skin disease characterized by dark wartlike patches in the body folds

Front 10

primary craniosynostosis

Back 10

abnormal suture biology causes premature suture fusion

Front 11

secondary craniosynostosis

Back 11

normal suture biology but other internal / external forces causes premature suture fusion

Front 12

syndromic craniosynostosis

Back 12

premature suture fusion associated with other body deformities

Front 13

Micro-Computed Tomography

Back 13

the high-resolution version of conventional CT,
constructs 3D images of structures in bones too small for viewing with regular CT,
MCT resolution can be below 5 microns, while conventional CT Scanner resolutions are millimeter or less

Front 14

osteotomy

Back 14

an osteotomy is a surgical operation whereby a bone is cut to shorten, lengthen, or change its alignment.

Front 15

Neoplasia

Back 15

new growth, process of excessive and
uncontrolled cellular proliferation

Front 16

Metastatic

Back 16

capable of spreading to distant tissues

Front 17

Malignant
(differentiation, rate of growth, local invasion, metastasis)

Back 17

less differentiated, atypical structure,
erratic and may be slow to rapid in growth,
locally invasive,
frequently metastatic

Front 18

Benign

Back 18

well defined, similar structure as progenitor,
progressive and slow growth,
well demarcated masses that don't invade,
not metastatic

Front 19

sarcomas

Back 19

tumors of the mesenchymal tissue (bone, muscle, connective, nervous)

Front 20

carcinomas

Back 20

originate in epithelium (intestines, bronchi, mammary ducts)

Front 21

leukemias / lymphomas

Back 21

hematopoietic and lymphoid tissue cancers (bone marrow, peripheral blood, and lymphatics)

Front 22

hereditary cancer

Back 22

inherited in germline

Front 23

familial cancers

Back 23

higher incidence in families than in normal populations
(makes up less than 5% of all patients with cancer)

Front 24

sporadic cancers

Back 24

mutation occurs in a single cell, cell proliferates into tumor

Front 25

oncogene

Back 25

undergoes a gain of function;
normally increases cell growth and survival;
need only mutate one allele to generate cancer

Front 26

tumor suppressor genes

Back 26

undergoes a loss of function;
normally inhibits cell growth and survival;
need mutate both alleles to generate cancer

Front 27

two hit hypothesis

Back 27

in cancers arising from tumor suppressor genes, both alleles must be mutated to generate a neoplasia

Front 28

gatekeepers

Back 28

regulate transition of cells through gates or checkpoints in cell cycle or programmed cell death

Front 29

caretakers

Back 29

protect integrity of the genome; detect and repair mutations in genes

Front 30

leukocoria

Back 30

white pupil reflex, “cat’s eye” reflex

Front 31

strabismus

Back 31

crossed eye

Front 32

desmoid tumor

Back 32

a tumor of the tissue that surrounds muscles, usually in the abdomen.

Front 33

Proteus Syndrome

Back 33

elephant man syndrome,
skin overgrowth and atypical bone development; linkage to PTEN gene

Front 34

epidermodysplasia verruciformis

Back 34

tree man syndrome,
excessive carcinomas on the skin after infection by HPV

Front 35

Café-au-lait Macules

Back 35

dark patches of skin

Front 36

Intertriginous Freckling

Back 36

also called "crowe's sign",
skinfold freckling

Front 37

Lisch Nodules

Back 37

Small nodules of the iris, Do not affect vision


Front 38

neurofibromas

Back 38

benign Tumors composed of Schwaan Cells, fibroblasts, perineuralcells, and mast cells

Front 39

plexiform neurofibromas

Back 39

nerve fasicle tumors made up of skin, fascia, muscle, bone, and internal organs

Front 40

Electroporation

Back 40

externally applied electric field induces a transient morphological change of the plasma membrane to allow substances to enter the cell

Front 41

interventional clinical trial

Back 41

a study in which the researcher chooses the intervention / treatment for the study participants

Front 42

observational clinical trial

Back 42

a study in which the researcher does not choose the intervention / treatment for the study participants

Front 43

Syndrome

Back 43

a group of symptoms that
collectively indicate or characterize a disease,
psychological disorder, or other abnormal
condition

Front 44

Enterocolitis

Back 44

severe inflammation of the intestines that affects the intestinal lining, muscle, nerves and blood vessels.

Front 45

Neurocristopathies

Back 45

Abnormalities of neural crest-derived tissues