Genetic and Developmental Disorders

Question 1

Developmental abnormalities caused by ______1_________; agents that cause fetal abnormalities are called _____2_____; 5% of malformations are caused by exogenous _______2_____; classified as physical, chemical and microbial

Answer 1

1- exogenous teratogens

2- teratogens

Question 2

__________ is best known are exposure by the mother to radio active substances during pregnancy, i.e. x-rays, alpha, beta or gamma rays

Answer 2

Physical teratogens

Question 3

____________ is agents used in industrial settings or ingested as drugs or alcohol

Answer 3

Chemical Teratogens

Question 4

____________________ is alcohol abuse during pregnancy leads to typical set of symptoms; intrauterine growth retardation; decreased growth of the fetal brain; typical facial features: small cranium and jaws, thin upper lip, palpebral abnormalities such as epicentral folds and short palpebral cleft

Answer 4

Fetal Alcohol Spectrum Disorder (FASD)

Question 5

_____________ is infection during fetal development may affect indirectly or directly; especially harmful organisms to the baby are toxoplasma; Listeria monocytogenes, Epstein Barr Virus, Varcella Virus, Rubella, Cytomegalovirus, herpes virus

Answer 5

microbial teratogens

Question 6

______________ is a protozoan infection; often picked up by pregnant women through cat or dog faces and or handling raw meat; infection can affect fetus at any time, more serious however in the early months, usually transmission occurs in the last trimester

Answer 6

Toxoplasmosis

Question 7

________________ is a neonatal infection acquired in utero; characterized by disseminated abscesses, granulomas and a high mortality rate; causes bacterial meningitis in infants

Answer 7

Listeria monocytogenes

Question 8

_________ causes a triad of congenital heart defects, microencephaly and microphthalmia; effect on the fetus occurs if the mother is infected during the first trimester of pregnancy

Answer 8

rubella

Question 9

_______________ usually causes just a mild sore throat; most common congenital infection; may occur as neonatal syndrome with reduced IQ; may be asymptomatic a birth and manifest later in life

Answer 9

cytomegalovirus

Question 10

___________ is usually transmitted from mom to baby during parturition (birth); it may cross the placental barrier; all babes eyes have silver nitrate drops added at birth (as a germicide); risk of all the herpes complications for baby are encephalitis, blindness

Answer 10

herpes virus or herpes simplex virus

Question 11

_____1_____ is multifactorial [maternal factors, fetal factors, placental factors]; ____2____ infants show signs of anatomic and functional immaturity of their vital organs especially of the lungs and the brain; as a consequence, these children tend to develop Neonatal Respiratory Distress Syndrome

Answer 11

1 - Prematurity

2 - premature infants

Question 12

_____________________ in the last trimester of pregnancy the lung type 2 alveolar cells secrete surfactant to reduce surface tension and keep alveoli expanded; if fetus is born prematurely, there is not the required amount of surfactant available, the alveoli collapse and there is decreased oxygen perfusion

Answer 12

Neonatal Respiratory Distress Syndrome (NRDS)

Question 13

_____________ is ethology unknown; risk factors include young mothers, mothers of lower socioeconomic status familial tendencies or history of SIDS; premature infants with respiratory or GI problems; smoking or substance abusing mothers

Answer 13

Sudden Infant Death Syndrome

Question 14

__________ is disease caused by genetic abnormalities due to genetic transmission or to mutation, ex. Down’s syndrome, muscular dystrophy, CF

Answer 14

genetic disease

Question 15

___________ passage of hereditary traits from one generation to the next

Answer 15

inheritance

Question 16

__________________ genetic potential to develop a certain disease or condition in the presence of specific environmental stimuli

Answer 16

genetic predisposition

Question 17

_________ permanent variation in genetic structure with offspring differing from parents in a characteristic; a change in a gene potentially capable of being transmitted to offspring

Answer 17

mutation

Question 18

_______________ is the potential to develop a certain disease in the presence of specific co-factors (i.e. specific environmental stimuli)

Answer 18

genetic predisposition

Question 19

____________ occurs independent from other stimuli

Answer 19

genetic disease

Question 20

____________ are PRESENT AT BIRTH and may be caused by exposure to physical, chemical or microbial teratogens during pregnancy; they may also be acquired during birth.

Answer 20

congenital diseases

Question 21

_____________ are a result of genetic transmission

Answer 21

inherited diseases

Question 22

two sets of ___ chromosomes in each human cell

Answer 22

23

Question 23

there are two sets of __a__ autosomes and the remaining __b__ are the sex chromosomes, either ___or __c___; females are ___d___; males are ___e__; abnormalities occur as structural or functional

Answer 23

a- 22
b- 2
c- x or y
d - xx
e - xy

Question 24

structural abnormalities of chromosomes can occur as either ________ or _______

Answer 24

deletions or translocations

Question 25

__________ of the short arm of chromosome 11 is associated with a complex syndrome called WAGR (wilm’s tumor of the kidney, aniridia, genital malformation and reduced IQ) ; ____________ of the long arm of chromosome #13 is associated with tumors of the retina called RETINOBLASTOMA

Answer 25

deletions

Question 26

_____________ is associated more with infertility, congenital malformations; some forms of Down’s Syndrome involve _________ of chromosome 21 to 14.

Answer 26

translocations

Question 27

________________ involves net loss or gain of a chromosome

Answer 27

Numerical Chromosomal Abnormalities

Question 28

____________ refers to the loss of a chromosome; i.e. sex chromosome monosomy = XO = Turner’s Syndrome, autosomal monosomy: not compatible with life, usually spontaneously aborts

Answer 28

monosomy

Question 29

____________ refers to the fain of an autosomal chromosome; i.e. Trisomy 21 or Down Syndrome (extra chromosome 21)

Answer 29

trisomy

Question 30

________________ is most common numerical abnormality; classified as a syndrome because its range of characteristics; pathogenesis not fully understood but it is possibly related to the maternal chromosome not reducing properly (more common in older mothers); Clinical features: reduced IQ of varying degrees, slanted eyes, epicanthal folds, congenital heart disease

Answer 30

Trisomy 21 or Down Syndrome (3 copies of chromosome 21)

Question 31

_____________ has a karyotype of 45 XO; monosomy of sex-chromosome, phenotypically female

Answer 31

turner syndrome

Question 32

_____________ has a karyotype of 47 XXY; phenotypically male, testes are atrophic, non sperm producing.

Answer 32

Klinefelter’s Syndrome

Question 33

____________ is the manifestation of a hereditary condition in individuals (i.e. down’s syndrome)

Answer 33

penetrance

Question 34

____________ is what appears to be the genetic disease in an individual (like virulence but with genetics)

Answer 34

phenocopy

Question 35

___________ provides us with basic rules to follow for inheritance of genetic traits pattern of inheritance

Answer 35

mendelian genetics

Question 36

_____________ is located on 1 of the 22 autosomes and is dominant in the relationship to its alleles; it is fully expressive in homozygous and heterozygous genotypes

Answer 36

Autosomal Dominant Disorders

Question 37

______________ is an autosomal dominant disorder found in elastic fibres of connective tissue (joints and blood vessels) pathogenesis = the gene for maintaining connective tissue structure of various organs is defective; death is susally caused by complications from heart failure, respiratory failure or exsanguination (=excessive bleeding)

Answer 37

Marfan’s Syndrome

Question 38

____________________ is the most important autosomal dominant disease; mutation in the gene encoding the receptor for LDL; cannot clear LDL out of the body; may deposit into the skin and form yellow nodules called XANTHOMAS; resulting in severe atherosclerosis leading to occlusion, embolism, coronary and carotid artery stenosis, cerebrovascular disease, peripheral vascular disease, etc.

Answer 38

Familial Hypercholesterolemia

Question 39

__________________ trait is located on 1 of the 22 autosomes; the disorder is only manifest with homozygous genotypes

Answer 39

Autosomal Recessive Disorders