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CYTOGENETICS > CALM 5 > Flashcards

CALM 5 Flashcards

1
Q

During the ____ , all embryos develop two unspecialized gonads, which are organs that will develop as either testes or ovaries. Each such “indifferent” gonad forms near two sets

A

fifth week

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2
Q

one set of tube

A

Müllerian ducts

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3
Q

sexual structures characteristic of a female.

A

Müllerian ducts

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4
Q

If a gene on the Y chromosome called SRY (for “sex-determining region of the Y”) is activated,

A

hormones steer development along a male route.

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5
Q

In the absence of SRY activation,

A

a female develops.

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6
Q

Human males and females have equal numbers of autosomes

A

(44 or 22 pairs

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7
Q

two different sex chromosomes

A

heterogametic sex

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8
Q

two of the same sex chromosome

A

homogametic sex.

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9
Q

This symmetry in a DNA sequence, described by researchers as ___destabilizes DNA replication.

A

“a hall of mirrors”

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10
Q

The ___has a distinctive overall structure with a short arm and a long arm.

A

Y chromosome

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11
Q

At both tips of the Y chromosome are___ , termed PAR1 and PAR2.

A

pseudoautosomal regions

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12
Q

means that the DNA sequences have counterparts on the X chromosome and can cross over with them.

A

pseudoautosomal

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13
Q

lies between the two pseudoautosomal regions. It consists of three classes of DNA sequences.

A

male-specific region, or MSY

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14
Q

Many of the genes in the MSY are essential to fertility, including

A

SRY

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15
Q

The SRY gene encodes a very important type of protein called a ___, which controls the expression of other genes.

A

transcription factor

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16
Q

___cells in the developing testis secrete anti-Müllerian hormone, which destroys potential female structures (uterus, uterine tubes, and upper vagina).

A

sustentacular (Sertoli)

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17
Q

____ cells in the testes secrete testosterone, which stimulates the development of male structures (the epididymis, ductus deferentia, seminal vesicles, and ejaculatory ducts).

A

interstitial (Leydig)

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18
Q

embryos don’t have SRY, so they develop as females.

A

XX

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19
Q

embryos do have SRY, so they develop as male.

A

XY

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20
Q

caused by a mutation in a gene on the X chromosome, the absence of receptors for androgens (the male sex hormones testosterone and DHT) stops cells in early reproductive structures from receiving the signal to develop as male. The person looks female, but is XY.

A

androgen insensitivity syndrome (MIM 300068)

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21
Q

Is an older and more general term for an individual with both male and female sexual structures.

A

Hermaphroditism

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22
Q

Refers to individuals whose internal structures are inconsistent with external structures, or whose genitals are ambiguous. It is the preferred term outside of medical circles.

A

Intersex

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23
Q

Refers to the presence of both types of structures but at different stages of life.

A

Pseudohermaphroditism

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24
Q

Affected individuals have a normal Y chromosome, a wild type SRY gene, and testes.

A

5-alpha reductase deficiency

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25
Q

lack of__ causes the fetus to develop externally as female—that is, without DHT, a penis cannot form.

A

DHT

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26
Q

due to 21- hydroxylase deficiency (MIM 201910),

A

congenital adrenal hyperplasia (CAH)

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27
Q

a person’s phenotype & genotype are consistent, and physical attraction is toward members of the same sex.

A

homosexuality

28
Q

Undifferentiated structure begins to develop as testis or ovary

A

Gonadal Sex

29
Q

Development of external & internal reproductive structures continues as male or female in response to hormones

A

Phenotypic Sex

30
Q

Strong feelings of being male or female develop

A

Gender Identity

31
Q

Attraction to same or opposite sex

A

Sexual Orientation

32
Q

predicts that populations should have approximately equal numbers of male and female newborns.

A

Mendel’s law of segregation

33
Q

proportion of males to females in a human population

A

sex ratio

34
Q

calculated as the number of males divided by the number of females multiplied by 1,000, for people of a particular age

A

sex ratio

35
Q

The sex ratio at conception is called the

A

primary sex ratio.

36
Q

Sex ratio at birth is termed

A

secondary

37
Q

and at maturity is called

A

tertiary.

38
Q

The human male is considered ))))for X-linked traits, because he has only one set of X-linked genes.

A

hemizygous

39
Q

An enzyme deficiency blocks removal of cholesterol from skin cells, the upper skin layer cannot peel off as it normally does, appearing brown and scaly. It is transmitted as an X-linked recessive trait.

A

Ichthyosis

40
Q

Is another X-linked recessive trait that does not hamper the ability of a man to have children

A

Color Blindness

41
Q

Blood-clotting disorder.

A

Hemophilia A

42
Q

In affected females, swirls of skin pigment arise when melanin penetrates the deeper skin layers.

A

Incontinentia Pigmenti

43
Q

This condition produces many extra hair follicles, and hence denser and more abundant upper body hair.

A

Congenital generalized hypertrichosis

44
Q

X-linked recessive trait generally is more prevalent in

A

males than females

45
Q

affects a structure or function of the body that is present in only males or only females. Such a gene may be X-linked or autosomal.

A

sex-limited trait

46
Q

sudden rise in blood pressure late in pregnancy.

A

preeclampsia

47
Q

An allele is dominant in one sex but recessive in the other.

A

sex-influenced trait

48
Q

balances this apparent inequality in the expression of genes on the X chromosome.

A

X inactivation

49
Q

a random process that happens separately in individual cells during embryonic development.

A

X-inactivation

50
Q

gene called ___controls X inactivation.

A

XIST

51
Q

can alter the phenotype (gene expression), but not the genotype.

A

X inactivation

52
Q

a ___does not have an inactivated X chromosome.

A

fertilized ovum

53
Q

X inactivation is an example of an .____ one that is passed from one cell generation to the next but that does not alter the DNA base sequence.

A

epigenetic change i

54
Q

The nucleus of a cell of a female, during interphase, has one dark-staining X chromosome

A

Barr body (a small, dense structure).

55
Q

A female who is ___can express the associated condition if the normal allele is inactivated in the tissues that the illness affects.

A

heterozygous for an X-linked recessive gene

56
Q

carrier of an X-linked trait who expresses the phenotype is called a

A

manifesting heterozygote.

57
Q

Cells that make the enzyme readily send it to neighboring cells that do not, essentially correcting the defect in cells that can’t make the enzyme.

A

Hunter syndrome (mucopolysaccharidosis II),

58
Q

Affected boys are deaf, mentally retarded, have dwarfism and abnormal facial features, heart damage, and enlarged liver and spleen.

A

Hunter syndrome (mucopolysaccharidosis II),

59
Q

may develop mild symptoms of this disorder that causes skin lesions, abdominal pain, and kidney failure in boys.

A

Fabry disease (alpha-galactosidase A deficiency)

60
Q

methyl (CH 3) groups cover a gene or several linked genes and prevent them from being accessed to synthesize protein

A

genomic imprinting

61
Q

epigenetic alteration.

A

Imprinting

62
Q

passed from cell to cell in mitosis, but not from individual to individual through meiosis.

A

Imprinting

63
Q

controls placenta development

A

male genome

64
Q

controls embryo development.

A

female genome

65
Q

When two sperm fertilize an oocyte and the female pronucleus degenerates, an abnormal growth of placenta-like tissue called a ___forms

A

hydatidiform mole

66
Q

due to a deletion in the copy of the chromosome he inherited from his father. Note his small hands.

A

Prader-Willi syndrome

67
Q

caused by a deletion in the chromosome 15 that he inherited from his mother. He is mentally retarded.

A

Angelman syndrome

CYTOGENETICS (6 decks)

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