Exam 2 Vocab Flashcards

Question

what is dysplasia

Answer 1

morphological defect of a tissue, results from abnormal organization of cells into tissue, often caused by single gene defects

Answer 2

accounts for 70% of diagnosed cases of dwarfism, abnormal body proportions, hump on back, large head and flat nose, shortened stubby fingers, trident hand

Answer 3

cascade of defects, arise from single prior anomaly or mechanical complex, usually sporadic with low recurrence risk

Answer 4

pattern of defects (not causing each other but altogether caused by same cause), pattern of abnormalities is consistent and recognizable

Answer 5

piebaldism, deafness, and patching skin coloring. Caused by RET gene mutation

Answer 6

piebaldism

Answer 7

multiple abnormalities associated with each other, NOT sequence and NOT syndrome

Answer 8

``` V-vertebrate problems A-anal abnormalities T-trachea problems E-esophagus problems, R-radius problems ```

Answer 9

malformations that tend to occur together more than might be expected due to chance

Answer 10

environmental factors which can adversely affect the developing embryo

Answer 11

transformation of one body segment to another

Answer 12

occur on the chromosome in the linear sequence corresponding to the part of the body axis controlled

Answer 13

a homeobox gene, required for pancreatic development

Answer 14

aniridia, complete loss of the iris

Answer 15

mutation that increases receptor signaling by 100 fold

Answer 16

failure of the embryo's forebrain to divide to form bilateral cerebral hemispheres causing

Answer 17

short fingers caused by IHH mutation

Answer 18

units where dna is packaged into

Answer 19

studies normal and abnormal chromosomes and their relationship to human development and disease

Answer 20

test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells

Answer 21

``` a molecular technique used to simultaneously visualize all the pairs of chromosomes in an organism in 24 different colors. ```

Answer 22

an exchange of genetic material between homologous chromosomes,results in genetic recombination, Occurs during prophase I of meiosis (pachytene) in a process called synapsis

Answer 23

chromosomal doubling in spermatozoid after fertilization, | Egg genome is eliminate for some reason

Answer 24

activation of unovulated oocyte

Answer 25

loss or gain of chromosomes

Answer 26

extra set of chromosomes

Answer 27

two cell lines within the same body: e.g. one normal, one with mutation or chromosomal abnormality

Answer 28

two embryos mixed all together – e.g. male and female

Answer 29

(patau syndrome),multiple malformations, severe developmental delay, no speech development

Answer 30

edwards syndrome, severe talipes, horseshoe kidneys, severe retardation

Answer 31

small testes, inability to produce sperm; Could have breast cancer, male with female features

Answer 32

Increased space between the eyes; Epicanthal folds; Could be mild intellectual impairment; could be not. Sometimes neuromotor development is delayed…. Common problems with spontaneous abortion. Fertile, tall, looks normal

Answer 33

doesnt include centromere, inversion or loss of the fragment

Answer 34

includes centromere, inversion that includes centromere or loss of both telomeres with curling into the circle

Answer 35

no net gain or loss of chromosomal material Translocations and inversions. No phenotype produced except cases when: -- Chromosomal break disrupts important gene -- Break separate gene from regulatory element

Answer 36

net gains or losses Deletions and insertions Unfortunately many translocations are accompanied by 100 kb – 1 Mb deletions

Answer 37

Only happens with chromosomes 13, 14, 15, 21 and 22 (rDNA carriers) Both centromeres are present, but they function as one, so chromosome is stable

Answer 38

``` Severe growth retardation Psychomotor delay and mental retardation Dysgenesis of the corpus callosum Seizures Renal hypoplasia Ventricular septal defect -wolf-hirschorn syndrome Facial features ```

Answer 39

``` aka 5p deletion, Low birth weight, may have respiratory problems, Microcephaly, Mental retardation, Facial features Normal life expectancy In 80% of cases deletion is paternal ```

Answer 40

aka 7q11.2 syndrome, mild mental retardation (some are normal); Strengths in auditory memory and language, extreme weakness in 3D skills (writing, math); Elastin artheriopahty (elastin gene is deleted), arteries is narrow; distinctive facial features Hypercalcemia Overfriendliness, generalized anxiety, and attention deficit disorder

Answer 41

``` aka 11q syndrome, mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, Thrombocytopenia ```

Answer 42

an inversion of the circadian rhythm of melatonin : sleep disturbances (sleep whole day, party all night) self-injurious behavior: head banging; hand/nail biting; skin picking; pulling off fingernails and/or toenails “for fun and when bored”. Other behavioural disturbances.

Answer 43

a history of recurrent infection due to thymus agenesis or hypoplasia; parathyroid gland hypoplasia (hypocalcemia) heart defects facial features.

Answer 44

Caused by Mutations that leads to increase in the rate of chromosome breakage Chromosomal rearrangements are consequences, not a cause here Often lead to increased chance of cancer

Answer 45

The fingers and/or toes | become white and/or blue ;

Answer 46

Calcinosis (calcium deposits), usually in the fingers; Raynaud's spasm of blood vessels in response to cold or stress. Esophagus muscle control loss (difficulty swallowing) Sclerodactyly, a tapering deformity of the bones of the fingers; Telangiectasia, small red spots on the skin

Answer 47

``` congenital microcephaly, mild dysmorphic facial appearance, growth retardation, immunodeficiency, high risk for lymphoid malignancy ```

Answer 48

hereditary nonpoliosis colon cancer, inherited defect in mismatch repair enzyme, so patients accumulate a very high rte of genetic mutations

Answer 49

progression

Answer 50

function to promote cell growth or inhibit cell death

Answer 51

function to inhibit the oncogenic process, frequently act in recessive fashion

Answer 52

Cancer cells travel through the circulatory system until it grows into a small plug. Only 0.01% of cancer cells survive in circulation