Genetics, Chromosomes And Genes

Front 1

What is teratology?

Back 1

The study of developmental anomalies

Front 2

What are chemical, physical, and biological agents that cause developmental anomalies?

Back 2

Teratogens

Front 3

What term describes the complete absence of an organ primordium?

Back 3

Agenesis

Front 4

What is aplasia?

Back 4

Defective development resulting in absence of all or part of an organ

Front 5

Hypoplasia means?

Back 5

reduced size owing to incomplete development of all or part of an organ

Front 6

What denotes the persistence of embryonic or fetal structures that should have involuted at certain stages of development?

Back 6

Involution failures

Front 7

If fingers and toes are conjoined or incompletely separated, what has occured?

Back 7

Division failure

Front 8

A congenital heart defect that describes failure of the development of the right ventricle would be classified as what?

Back 8

Atresia

Front 9

An abnormal organization of cells into tissues, which results in abnormal hisotgenesis is called what? Tuberous sclerosis is an example of this

Back 9

Dysplasia

Front 10

What is the term for an anomaly in which an organ is situated outside its normal anatomic site?

Back 10

Ectopia or hetertopia

Front 11

What does dystopia mean?

Back 11

Inadequate migration of an organ that remains where it was during development, rather than migrating to its proper site.

Front 12

After which month in pregnancy does exposure of the fetus to teratogenic influcence rarely result in major errors of morphogenesis?

Back 12

The thrid month

Front 13

An anatomic defect that is caused by adverse influences in the last two trimesters of pregnancy are called what?

Back 13

deformations

Front 14

What was banned in 1962 that was found to cause skeletal deformities of the limbs but did not affect the CNS?

Back 14

Thalidomide

Front 15

Potter complex is an example of what?
1)Polytopic effect
2)Developmental Syndrome
3)Developmental sequence anomaly or
4)Dysraphic anaomly

Back 15

3) Developmental sequnce anomaly: pattern of defects related to a single anomaly.
Developmental syndrome refers to multiple anaomalies that are pathogenetically related

Front 16

At what point during pregnancy can T. pallidum invade the fetus to cause syphilis?

Back 16

An any point in pregnancy

Front 17

At which stage during gametogenesis does crossing over occur?

Back 17

Prophase I

Front 18

Which stage in gametogenesis do homologous chromosomes align at the equatorial plate?

Back 18

Metphase I

Front 19

Which stage of gametogenesis does homologous pairs seperate with sister chromatids remaining together?

Back 19

Anaphase I

Front 20

Which stage of meiosis is when two daughter cells are formed with each daughter containing only one chromosome of the homologous pair?

Back 20

Telophase I

Front 21

Does DNA replicate in prophase 2?

Back 21

No

Front 22

When does DNA synthesis occur?

Back 22

Interphase

Front 23

At which stage do the centromeres divide and the sister chromatids seperate?

Back 23

Anaphase II

Front 24

What is the product at telophase II?

Back 24

Four haploid daughter cells.

Front 25

How many chromosomes are in diploid cells?

Back 25

46

Front 26

How many chromosomes are in haploid cells?

Back 26

23

Front 27

A human somatic cell with 92 chromosomes would be what type of cell?
Haploid, Diploid, Euploid or Aneuploid

Back 27

Euploid. 92 is a multiple of 23 (haploid cell).

Front 28

A human somatic cell with 85 chromosomes would be what type of cell?
Haploid, Diploid, Euploid or Aneuploid

Back 28

Aneuploid. It is not an exact multiple of a haploid number, therefore it is aneuploid

Front 29

An absence of one chromosome of a homologous pair is called:
Monosomy or Trisomy?

Back 29

Monosomy

Front 30

the presence of an extra copy of a normally paired chromosome, such as in Down Syndrome, is called what?

Back 30

Trisomy

Front 31

What is an exchange of acentric chromosomal segment between different chromosomes?

Back 31

Reciprocal Translocation

Front 32

What is the difference between a reciprocal translocation and a robertsonian translocation?

Back 32

Robertsonian involves the centromere of acrocentric chromosomes.

Front 33

Where does the break occur with a pericentric inversion? With a paracentric inversion?

Back 33

Pericentric: results from breaks on opposite sides of the centromere
Paracentric: involves breaks on the same arm of the chromosome

Front 34

Which chromosomal abnormality causes Turner Syndrome?
Ring Chromosome, Isochromosome, Deletion or Inversion

Back 34

Isochromosome

Front 35

Which chromosomal abnormality is formed when there is a faulty centromere division?

Back 35

Isochromosomes

Front 36

What is a failure of paired chromosomes or chromatids to separte and move to opposite poles of the spindle at anaphase?

Back 36

Nondisjuction

Front 37

When the body contains two or more karyotypically different cell lines is called what?

Back 37

mosaicism

Front 38

Is autosomal mosaicism or mosaicism involving sex chromosomes more common?

Back 38

Mosaicism involing sex chromomes is common and found in patients with gonadal dysgenesis who present with Turner or Klinefelter syndrome

Front 39

What are the three ways structural and numerical chromosomal abnormalities are classified?

Back 39

1) Total # of chromosomes
2) Designation # of affected chromosomes
3) Nature and location of the defect on the chromosome

Front 40

The short arm of a chromosome is designated ?
The long arm?

Back 40

Short arm- p
Long arm -q

Front 41

What is the most common mechanism in which three copies of the genes on chromosome 21 occur?

Back 41

Nondisjuction

Front 42

What three mechanisms by which three copies of the genes on chromosome 21 occur?

Back 42

Nondisjunction
Translocation
Mosaicism

Front 43

What is the most common translocation in Down's Syndrome?
t(14q;21q)
t(14p:21q)
t(21q;21q)
t(14p;21p)

Back 43

t(14q;21q)

Front 44

Which chromosome is the smallest human autosome?

Back 44

Chromosome 21

Front 45

What type of chromosomes have the centromere exactly in the middle?

Back 45

metacentric

Front 46

Which type of chromosome has very short arms or stalks and satellites attached to an eccentrically located centromere?

Back 46

acrocentric

Front 47

Which type of chromosome is divdied into a short arm, p, and a long arm, q?
Metacentric, Submetacentric or acrocentric

Back 47

Submetacentric

Front 48

Characterstics including low birth weight, MR, microcephaly and craniofacial and skeletal abnormalities are part of:
Translocation syndromes
Chromosomal deletion syndromes
Chromosomal breakage syndromes or
trisomies

Back 48

Chromosomal Deletion Syndromes

Front 49

What is cri du chat?

Back 49

The best known deletion syndrome. 5p-syndrome

Front 50

What syndrome leads to absence of the iris?

Back 50

11p-syndrome.
Often accompanied by Wilms tumor

Front 51

13q-syndrome is associated with what?

Back 51

Retinoblastoma

Front 52

Ring chromosomes are often associated with loss of material from which chromosomes?

Back 52

19, 20, 21 and 22

Front 53

Risk of leukemia, other cancers and disorders such as xeroderma pigmentosum, Bloom syndrome, Fanconi anemia and ataxia telangiectasia are caused from what type of chromosomal syndrome?

Back 53

Chromosomal Breakage Syndrome

Front 54

Numerical aberrations are more common in which?
Autosome or Sex Chromosomes?

Back 54

Sex Chromosomes

Front 55

Which chromosome is larger, X or Y?

Back 55

X

Front 56

What type of syndrome is XXY? XO?

Back 56

XXY- Klinefelter syndrome
XO- Turner syndrome

Front 57

True/False: The degree of mental retardation correlates roughly with the number of Y chromosomes?

Back 57

Correlates with the number of X chromosomes

Front 58

Testicular dysgenesis is another name for what syndrome that causes male hypogonadism and infertility?

Back 58

Klinefelter Syndrome (47, XXY)

Front 59

What type of structure is the X chromosome?
Acrocentric, Submetacentric, metacentric?

Back 59

X chromosome is Submetacentric

Front 60

What type of structure is the Y chromosome?
Acrocentric, Submetacentric or Metacentric

Back 60

Y chromosome is acrocentric

Front 61

Which is false of Klinefelter syndrome?
A) Low to normal testosterone
B) abnormal pituitary function
C)High levels of LH and FSH
D) Gynceomastia and high-pitched voice

Back 61

B) abnormal pituitary function

Front 62

Which syndrome is characteristic of the following: less than 5ft tall, webbed neck, low posterior hairline, broad chest.

Back 62

Turner Syndrome (45, X)

Front 63

What is the most common abnormality of sex chromosomes in women?

Back 63

47, XXX

Front 64

True/False: A mendelian trait in males is determine by both alleles, X and Y

Back 64

False. It is determine by just one allele

Front 65

What is determined by two copies of the same gene, called alleles, located at the same locus on two homologous chromosomes?

Back 65

A mendelian trait

Front 66

Sex-linked traits are encoded by loci on which chromosome, X or Y?

Back 66

X

Front 67

This type of phenotypic trait demands that both alleles be homozygous?

Back 67

Recessive phenotypic trait

Front 68

Which of the medelian traits is most rare?
Autosomal dominant
Autosomal recessive
Sex-linked Dominant
Sex-linked Recessive

Back 68

Sex-Linked Dominant

Front 69

Of the point mutations, which is most common?
Synonymous, Missense or Nonsense

Back 69

Missense

Front 70

An inherited neurodegenerative disease caused by expansion of a CAG repeat within the coding sequence is what?

Back 70

Huntingtons Disease

Front 71

What genetic disorder is the most common cause of inherited mental retardation?

Back 71

Fragile X syndrome

Front 72

What is the most common form of autosomal muscular dystrophy?

Back 72

Myotonic dystrophy

Front 73

What is an autosomal recessive degenerative disease that affects the CNS and the heart?

Back 73

Friedreich's Ataxia

Front 74

Trinucleotide repeats are associated with all of the following EXCEPT?
Huntingtons Disease, Turners Syndrome, Myotonic dystrophy, Spinocerebellar ataxia, Kennedy Disease, Friedreich's ataxia, Fragile X syndrome

Back 74

Turners syndrome

Front 75

Sickle cell anemia reults from substitution of what?

Back 75

Valine for glutamic acid

Front 76

Where is the best-characterized hotspot on a genome?

Back 76

Dincucleotide pair CG

Front 77

What is the most common autosomal dominant disorder?

Back 77

Familial hypercholesterolemia

Front 78

What are the heritable diseases of connective tissue that are heterogeneous?

Back 78

Marfan syndrome, Ehlers-Danlos syndrome and osteogenesis imperfecta

Front 79

Which is least associated with Marfan syndrome:
Fibrillin-1, Collagen, Microfibrils or Elastin

Back 79

Elastin

Front 80

What does arachnodactyly mean?

Back 80

Spider fingers (Marfan syndrome)

Front 81

What syndrome is characterized by soft, fragile, hyperextensible skin?

Back 81

Ehlers-Danlos Syndrome

Front 82

Neurofibromatosis is caused from a mutation of which gene?

Back 82

NF1 gene-- neurofibromin, which belongs to GTPase-activating protein which inactivates the ras protein. Without GAP, uncontrolled ras activation occurs, which causes formation of neurofibromas. NF1 is a tumor suppressor

Front 83

What is characterized by the presence of neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior lenticular opacity?

Back 83

NF2 (central neurofibromatosis)

Front 84

Is NF1 or NF2 more common?

Back 84

NF1

Front 85

Do the following characterize NF1 or NF2?
Neurofibrosarcoma, Cafe au lait spots, Lisch nodules and Skeletal lesion

Back 85

NF1

Front 86

What disease is characterized by tendon xanthomas and coronary heart disease?

Back 86

Familial hypercholesterolemia

Front 87

What are the autosomal dominant disorders?

Back 87

Marfan syndrome, Ehlers-Danlos, Osteogenesis imperfecta, Neurofibromotosis, Achondroplastic dwarfism, familial hypercholesterolemia

Front 88

Diseases caused by imparied catabolism of dietary substances, such as phenylketonuria or cellular constituents, such as Tay-sachs, are autosomal recessive or dominant?

Back 88

Autosomal recessive

Front 89

Are sympoms less variable in autosomal recessive or dominant diseases?

Back 89

Less variable in autosomal recessive

Front 90

Do autosomal recessive traits appear more commonly in childhood or appear in adults?

Back 90

Recessive more common in cihldhood, while dominant disorders more in adults

Front 91

What disease is characterized by chronic pulmonary disease, deficient exocrine pancreatic function and inspissated mucus in the small intestine, liver and reproductive tract?

Back 91

Cystic Fibrosis

Front 92

Cystic fibrosis is defect in what?

Back 92

Chloride channel

Front 93

Which disease results in large spleen and presence of Gaucher cells? What type of autosomal disease is this?

Back 93

Gaucher disease- Autosomal recessive

Front 94

Which autosomal recessive disease is characterized by a cherry red spot in the retina?

Back 94

Tay-Sachs Disease.
Presents b/w 6-10 months of age by progressive weakness, hypotonia, and decreased attentiveness.

Front 95

GM2, ganglioside accumulates in lysosomes of all organs, mostly the brain neurons and retina in which disease?

Back 95

Tay-Sachs

Front 96

Which of the glycogenoses disease results from accumulation of glycogen?
Pompe disease
andersen disease
von Gierke Disease
McArdle Disease

Back 96

Pompe and Andersen diseases

Front 97

What syndrome is chronic tyrosinemia characterized by?

Back 97

Fanconi syndrome

Front 98

Tyrosine is important in the production of what?
hint: skin pigmentation

Back 98

melanin

Front 99

Does tyrosinase positive or negative OCA cause red pupils and photosensitivity?

Back 99

Negative

Front 100

Are these X-linked dominant or recessive disorders:
Familial hypophospatemic rickets
Fragile X Syndrome
Duchennes Musc. Dystrophy
Fabry disease
Ornithin transcarbamylase def.
Hemophilia A

Back 100

FHR: Dominant
Ornithine def: Dominant
Recessive- Fragile X, Musc dystrophy, Hemophilia A, Fabry disease

Front 101

What defines prematurity?

Back 101

Gestational age of less than 37 weeks

Front 102

Infants with congenital abnormalities and infections acquired in utero and disorders related more to birth defects or inherited metabolic disease are AGA or SGA?

Back 102

SGA.
AGA infants have severe resp distress, circulatory problems and bacterial sepsis

Front 103

Does AGA refer to intrauterine growth retardation or prematurity? Which does SGA refer to?

Back 103

AGA-prematurity
SGA- intrauterine growth retardation

Front 104

What is the leading cause of morbidity and mortality among premature infants?

Back 104

Respiratory distress syndrome

Front 105

What are the major complications of RDS related to anoxia and acidosis?

Back 105

Intraventricular cerebral hemorrhage
Persistent patent ductus arteriosus
Necrotizing enterocolitis
Bronchopulmonary dysplasia

Front 106

What is the leading cause of death in the first year of life?

Back 106

SIDS