Gametogenesis Flashcards

1
Q

The process by which the male gamete, the sperm, and the female gamete, the oocyte, unite to give rise to a 💡zygote.

A

Fertilization

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2
Q

These are the cells were 💡gametes are derived.

They are formed in the 💡epiblast during the 💡second week, move through the 💡primitive streak during 💡gastrulation, and migrate to the wall of the 💡yolk sac

A

Primordial Germ Cells (PGCs)

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3
Q

During the(1)__, these cells begin to migrate from the yolk sac toward the developing gonads, where they arrive by the end of the (2)__.

A

(1) fourth week

(2) fifth week

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4
Q

It is a process of of 💡producing gametes

A

Gametogenesis

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5
Q

Gametogenesis includes:

A

Meiosis

Cytodifferentiation

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6
Q

Humans have approximately __ genes on 46 chromosomes.

A

23,000

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7
Q

Genes on the 💡same chromosome tend to be 💡inherited together and so are known as __.

A

Linked genes

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8
Q

In somatic cells, chromosomes appear as __ to form the diploid number of 46.

A

23 homologous pairs

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9
Q

22 pairs of matching chromosomes

A

Autosomes

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10
Q

One pair of matching chromosomes

A

Sex chromosomes

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11
Q

One chromosome of each pair is derived from the maternal gamete, the (1)__, and one from the paternal gamete, the (2)__.

A

(1) oocyte

(2) sperm

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12
Q

Each gamete contains a (1)__, and the unión of the gametes at fertilization restores the (2)__.

A

(1) Haploid number of 23 chromosomes

(2) Diploid number of 46

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13
Q

It is the process whereby one cell divides, giving rise to 💡two daughter cells that are 💡genetically identical to the parent cell

A

MITOSIS

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14
Q

Before a cell enters mitosis, each chromosome __ its DNA.

A

replicates

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15
Q

It is a stage in mitosis where the chromosomes begin to 💡coil, 💡contract, and 💡condense.

A

PROPHASE

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16
Q

Two parallel 💡subunits of chromosome.

A

Chromatids

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17
Q

It 💡joins the two chromatids into a narrow region forming the chromosome.

A

Centromere

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18
Q

At what phase of mitosis where the 💡chromatids become distinguishable?

A

PROMETAPHASE

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19
Q

It is a phase of mitosis where the 💡chromosomes line up in the equatorial plañe, and their 💡doubled structure is clearly visible.

A

METAPHASE

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20
Q

It is an 💡extension of microtubles that 💡attaches chromosomes from the centromere to the centriole.

A

Mitotic Spindle

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21
Q

It marks the beginning of anaphase.

A

Division of centromere of each chromosome

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22
Q

It is a phase of mitosis where the 💡chromatids migrates to opposite poles of the spindle.

A

Anaphase

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23
Q

What happens during telophase?

A

Chromosomes uncoil and lengthen
The nuclear envelope reforms
The cytoplasm divides

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24
Q

It is the cell división that takes place in the germ cells to 💡generate male and female gametes, sperm and egg cells, respectively.

A

MEIOSIS

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25
Q

Why does meiosis requires two cell divisions, meiosis I and meiosis II.

A

To reduce the number of chromosomes to the haploid number of 23

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26
Q

It is a process seen in meiosis where 💡homologous chromosomes align themselves in pairs

A

Synapsis

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27
Q

It is the 💡interchange of chromatid segments between paired homologous chromosomes which is a 💡critical events in meiosis I.

These events 💡enhances genetic variability by 💡random distribution of homologous chromosomes to the daughter cells

A

CROSSOVERS

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28
Q

It is an 💡X-like structure that is formed from the points of interchange that temporarily united as separation occurs.

A

CHIASMA

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29
Q

Results of meiotic divisions:

A
  1. Genetic variability

2. Each germ cell contains a haploid number of chromosomes

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30
Q

The primitive female germ cell (primary oocyte) produces only __, the mature oocyte.

A

one mature gamete

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31
Q

The primitive male germ cell (primary spermatocyte) produces __, all of which develop into spermatozoa.

A

four spermatids

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32
Q

What will happen to the 3 daughter cells that did not mature into oocyte?

A

They degenerate during subsequent development because they receive little cytoplasm.

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33
Q

These are the 💡three daughter cells that 💡did not mature.

A

Polar Bodies

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34
Q

It is the process whereby 💡oogonia differentiate into mature oocytes.

A

Oogénesis

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35
Q

Maturation of Oocytes Begins Before __.

A

Birth

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36
Q

These are cells that formed once PGCs have arrived in the gonad of a genetic female.

A

Oogonia

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37
Q

It is a layer of single 💡flat epithelial cells where all of the 💡oogonia in one cluster are probably derived.

A

Follicular Cells

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38
Q

These are formed when the oogonia arrest their cell división in 💡prophase of meiosis I.

A

Primary Oocytes

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39
Q

By the __ of development, some oogonia give rise to primary oocytes that enter prophase of the first meiotic división.

A

third month

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41
Q

A 💡primary oocyte, together with its surrounding 💡flat epithelial cells, is known as a __

A

Primordial Follicles

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42
Q

Oocytes have entered the __ of prophase, in which they remain until just before ovulation

A

diplotene stage

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43
Q

It is a 💡resting stage during prophase that is characterized by a 💡lacy network of chromatin.

A

Diplotene Stage

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44
Q

It is a small peptide 💡secreted by follicular cells that causes the 💡primary oocyte to remain arrested in prophase and do not finish their first meiotic división before puberty is reached.

A

Oocyte Maturation Inhibitor (OMI)

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45
Q

It is a 💡space seen in primary follicles where 💡fluid accumulates as they mature.

A

Antrum

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46
Q

It is formed when the the small cavities of the primary follicle is 💡💡filled until these cavities fuse together to form a large cavity—the antral cavity/antrum.

A

Vesicular (Antral) Follicle

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47
Q

It is formed when primordial follicle begin to grow, surrounding follicular cells change from flat to 💡cuboidal and proliferate to produce a 💡stratified epithelium of 💡granulosa cells and presence of a well-defined 💡zona pellucida.

A

Mature Primary (Preantral) Follicle

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48
Q

By the __, the majority of oogonia have degenerated except for a few near the surface.

A

seventh month

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49
Q

It is a stage where mature primary (preantral) follicle 💡accumulates fluid in a space called antrum.

💡Longest stage

A

Antral/ Vesicular Stage

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50
Q

These are 💡stratified cuboidal cells that rest on a basement membrane separating them from surrounding ovarían connective tissue (stromal cells) that form the theca folliculi.

A

Granulosa Cells

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51
Q

These are 💡ovarian connective tissue (stromal cells)

A

Theca Folliculi

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52
Q

It is a layer of 💡visible in irregular patches glycoproteins on the surface of the oocyte which is 💡secreted by granulosa cells

A

Zona Pellucida

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53
Q

It is the 💡cells of the theca folliculi 💡organize into an inner layer of 💡secretory cells.

It is composed of cells having characteristics of 💡steroid secretion, rich in blood vessels

A

Theca interna

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54
Q

It is the cells of the theca folliculi organize into an 💡outer fibrous capsule and gradually merges with the ovarian connective tissue

A

Theca externa

55
Q

It is formed when granulosa cells surrounding the oocyte remain intact.

💡MOUND OF GRANULOSA CELLS

A

Cumulus Oophorus

56
Q

The expelled secondary oocyte is surrounded by zona pellucida and one or more layers of follicular cells, which are radially arranged as __.

A

CORONA RADIATA

58
Q

With each ovarian cycle, a number of follicles begin to develop, but usually, only __ reaches full maturity.

A

one

59
Q

It is a 💡space where the 💡cell membrane of the secondary oocyte lies.

A

perivitlline space

60
Q

The secondary oocyte enters meiosis II but arrests in __ approximately 💡3 hours before ovulation.

A

metaphase

61
Q

Meiosis II is completed only if the oocyte is __.

A

Fertilized

62
Q

It is a process which begins at puberty, where spermatogonia are transformed into spermatozoa.

A

Spermatogenesis

63
Q

These are 💡supporting cells, which are derived from the surface epithelium of the testis.

They protect the germ cells, particípate in their 💡nutrition, and assist in the release of mature spermatozoa.

A

Sustentacular cells, or Sertoli cells

64
Q

It is where 💡spermatogenesis takes place.

A

seminiferous tubules

65
Q

These are formed when PGCs give rise to spermatogonial stem cells.

Their production marks the 💡initiation of spermatogenesis.

A

Type A spermatogonia

66
Q

They are formed from the 💡last cell division of type A spermatogonia.

A

Type B Spermatogonia

67
Q

These are formed when type B spermatogonia undergoes 💡mitotic division.

A

Primary Spermatocytes

68
Q

These are formed when primary spermatocytes then enter a 💡prolonged prophase (22 days) followed by 💡rapid completion of meiosis I

A

Secondary Spermatocytes

69
Q

These are haploid cells formed when secondary spermatocytes enter 💡second meiotic division.

A

Spermatids

70
Q

A hormone secreted by the 💡anterior pituitary gland which binds to receptors on 💡Leydig cells and 💡stimulates testosterone production, which in turn binds to Sertoli cells to 💡promote spermatogenesis.

A

Luteinizing Hormone

71
Q

A hormone secreted by the 💡anterior pituitary gland which stimulates 💡testicular fluid production and 💡synthesis of intracellular androgen receptor proteins upon binding to sertoli cells.

A

Follicle-stimulating hormone (FSH)

72
Q

It is the series of changes resulting in the 💡transformation of spermatids into spermatozoa.

A

Spermiogenesis

73
Q

These are the changes during spermiogenesis:

A

(1) Formation of the acrosome

(2) Condensation of the nucleus
(3) Formation of neck, middle piece, and tail
(4) Shedding of most of the cytoplasm as residual bodies that are phagocytized by Sertoli cells.

74
Q

It covers half of the 💡nuclear surface of the spermatocytes and 💡contains enzymes to 💡assist in penetration of the egg and its surrounding layers during fertilization

A

Acrosome

75
Q

These are tumors of disputed origin that often 💡contain a variety of tissues, such as bone, hair, muscle, gut epithelia, and others.

A

Teratomas

76
Q

It is a cell that give rise to all 💡three germ layers during 💡gastrulation

A

Epiblast cells

77
Q

Numerical chromosomal abnormalities:

A
Down Syndrome
Trisomy 18
Trisomy 13
Klinefelter Syndrome
Turner Syndrome
Triple X Syndrome
78
Q

Structural Chromosomal Abnormalities:

A
Cridu-chat Syndrome
Angelman Syndrome
Prader-Willi Syndrome
Miller-Dieker Syndrome
22q11 Syndrome
Fragile X Syndrome
79
Q

It refers to any exact multuple of n.

A

Euploid

80
Q

It refers to any chromosome number that is not euploid; it is usually applied when an extra chromosome is present (trisomy] or when one is missing (monosomy).

A

Aneuploid

81
Q

-

A

Nondisjunction

82
Q

-

A

Mosaicism

83
Q

-

A

Translocation

84
Q

It is caused by an extra copy of 💡chromosome 21 (trisomy 21)

A

Down Syndrome

85
Q

Clinical features of children with Down Syndrome:

A
Growth retardation 
Intellectual disability
Craniofadal abnormalities (upward slantíng eyes, epícantlial folds)
Flat facies
Small ears
Cardiac defects
Hypotonia
Broad hand with a single transverse [simian] crease.

High chances of leukemia, infections, thyroid dysfunction, and premature aging.

Earlier onset of Aizheimer disease

86
Q

Incidence of Down syndrome among conceptuses for women under age 25

A

1 in 2,000 newborns

87
Q

Incidence of Down syndrome among women under 35 years old.

A

1 in 300 newborns

88
Q

Incidence of Down syndrome among women under 40 years old.

A

1 in 100 newborns

89
Q

It is caused by an extra copy of 💡chromosome 18 (trisomy 18)

A

Edward’s Syndrome

90
Q

Clinical features of children with Edward’s Syndrome:

A
intellectual disability
congenital heart defects
low-set ears
flexión of fingers and hands
micrognathia (deficient mandible)
renal anomalies
syndactyly
malformations of the skeletal system
91
Q

Incidence of Edward’s Syndrome:

A

1 in 5,000 newborns

92
Q

It is caused by an extra copy of 💡chromosome 13 (trisomy 13)

A

Patau’ Syndrome

93
Q

Clinical features of children with Patau Syndrome:

A
intellectual dísability
holoprosencephaly
congenital heart defects
deafness
cleft lip and palate
eye defects (microphthalmia. anophthalmia, and coloboma)
94
Q

Incidence of Patau Syndrome:

A

1 in 20,000 live births

95
Q

It is caused by 💡additional X chromosome that is 💡found only in men.

XXY Chromosome + Barr Body

A

Klinefelter Syndrome

96
Q

Clinical features of Klinefelter Syndrome:

A
sterility
testicular atrophy 
hyalinization of the seminiferous tubules
gynecomastia
Tall stature
97
Q

It is formed by 💡condensation of an inactivated X chromosome

A

Barr Body

98
Q

Common causative event of Klinefelter syndrome

A

Nondisjunction of the XX homologues

99
Q

Incidence of Klinefelter Syndrome

A

1 in 500 males

100
Q

It is the only 💡monosomy compatible with life.

Karyotype: 45, X

98% of all fetuses with the syndrome are spontaneously aborted

A

Turner Syndrome

101
Q

Clinical features of Turner syndrome:

A
absence of ovaries (gonadal dysgenesis)
short stature
webbed neck
lymphedema of the extremities
skeletal deformities
Loose skin at the back of the neck caused by the remains of a cystic hygroma (fluid-filled cyst)

Seen at 6 years of age:
broad chest with widely spaced nipples.

102
Q

Karyotype is 47, XXX

💡Seen among girls often undiagnosed however, these girls frequently have problems with 💡speech and self- esteem.
They have two sex chromatin bodies in their cells.

A

Triple X Syndrome

103
Q

What is the usual cause of structural chromosomal abnormalities?

A

chromosome breakage

104
Q

It is caused by 💡partial deletion of the short arm of chromosome 5.

A

Cri-du-chat syndrome

105
Q

Clinical features of cri-du-chat- syndrome:

A

cat-like cry
microcephaly (small head]
intellectual disability
congenital heart disease

106
Q

-

A

Microdeletions

107
Q

Contiguous genes may result?

A

microdeletion syndrome or contiguous gene syndrome

108
Q

It is the sites where microdeletions occur,

A

Contiguous gene complexes

109
Q

Microdeletion occurs on the 💡maternal long arm of chromosome 15

A

Angelman syndrome

110
Q

Clinical features of Angelman syndrome:

A

intellectual disability
cannot speak
exhibit poor motor development
prone to unprovoked and prolonged periods of laughter

111
Q

Microdeletion occurs on the 💡paternal long arm of chromosome 15

A

Prader-Willi syndrome

112
Q

Clinical features of Prader-Willi syndrome:

A
hypotonia
💡obesity
intellectual disability
hypogonadism
undescended testes
113
Q

It is caused by a deletion at 💡17p13 and most cases of 💡22q11 syndrome

A

Miller-Dielker syndrome

114
Q

Clinical features of Miller-Dielter syndrome:

A

lissencephaly
developmental delay
seizures
cardiac and facial abnormalities

115
Q

These are regions of chromosomes that demónstrate a propensity to 💡separate or break under certain cell manipulations.

A

Fragile Sites

116
Q

It is caused by altered phenotype in the 💡FMRI gene on the long arm of the X chromosome (Xq27) and exclusively males are affected.

A

Fragile X Syndrome

117
Q

Clinical features of fragile X syndrome:

A

intellectual disability
large ears
prominent jaw
large testes

118
Q

Incidence of Fragile X syndrome:

A

1 in 5,000 individuals

119
Q

Fragile X syndrome is second only to __ as a cause of intellectual disability due to genetic abnormalities.

A

Down syndrome

120
Q

-

A

Mutation

121
Q

-

A

Single gene mutation

122
Q

-

A

Alleles

123
Q

If a 💡mutant gene 💡produces an abnormality in a single dose, despite the presence of a normal allele, it is a?

A

Dominant mutation

124
Q

If both alleles must be abnormal (double dose) or if the mutation is X-linked (occurs on the X chromosome) in the male, it is a?

A

Recessive mutation

125
Q

-

A

Inborn Errors of Metabolism

126
Q

-

A

Penylketonuria

127
Q

-

A

Homocystinuria

128
Q

-

A

Galactosemia

129
Q

It is used to assess chromosome number and integrity.

A

Cytogenetic analysis

130
Q

It uses 💡specific DNA probes to identify p💡loidy for a few selected chromosomes and for detecting microdeletions.

A

Fluorescent in situ hybridization (FISH)

131
Q

They use spots of specific DNA sequences (probes) attached to a solid surface, usually glass or Silicon (Affymetrix chips).

A

Microarrays

132
Q

This technique represents a new approach to finding mutations and polymorphism where only the coding regions (exons) in the genome are sequenced.

It can find a causative mutation in a single affected individual if the exomes from both parents can also be sequenced.

It can only identify variants in the coding regions of genes that alter proteins

A

Exome Sequencing

133
Q

Spermatozoa will obtain full motility in the __.

A

Epididymis

134
Q

It is the large, 💡swollen follicle.

A

Mature Vesicular (Graafian) Follicles