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ANAT 381 Experimental Embryology > Chromosomes: Gametes and preimplantation human embryos > Flashcards

Chromosomes: Gametes and preimplantation human embryos Flashcards

1
Q

Haploid gametes produce ___________ offspring

A

DIploid

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2
Q

What are some examples of aneuploidy?

A

Trisomy and monosomy

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3
Q

Haploidy is _________ set(s) of chromosomes

A

One

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4
Q

Polyploidy is more than _________ chromosomes

A

2N

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5
Q

Chromosomes rearrangements include translocations, deletions, ___________ and duplications

A

Inversions

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6
Q

True or false: The risk of having a child with chromosomal aberrations is smaller when a woman is older vs when a woman is younger

A

False, it is the opposite way around

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7
Q

True or false: Older men are 3 times more at risk of having children with Trisomy 21 than younger men

A

True

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8
Q

When can chromosome abnormality occur in gametogenesis?

A

Meiosis I and II, oogenesis, spermatogenesis

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9
Q

When can chromosome abnormality occur in fertilization?

A

Dispermic fertilization, digynic fertilization after ISCI, parthogenetic activation

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10
Q

When can chromosome abnormality occur in embryogenesis?

A

Mitotic error

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11
Q

What is the phenomenon of abnormal chromosome segregation?

A

Non-disjunction

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12
Q

When does non-disjunction occur during meiosis I in eggs?

A

Anaphase I

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13
Q

What is the result of non-disjunction during meiosis I in eggs?

A

Disomic and nullisomic gametes

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14
Q

Normal chromosome segregation in meiosis I results in ___________ gamete

A

2N

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15
Q

Non-disjunction in meiosis I leads to __________ or ____________

A

Trisomy; monosomy

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16
Q

Pre-division of chromatids in meiosis I leads to _____________

A

PSSC (premature separation of sister chromatids)

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17
Q

True or false: Pre-division of both univalents leads to a balanced MII oocyte

A

True

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18
Q

Which aspects of abnormal chromosome segregation are present in meiosis I but not in meiosis II?

A

Recombination failure, premature homologue separation

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19
Q

Karyotyping in eggs indicated an incidence rate of aneuploidy equal to ________ %

A

10-35

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20
Q

Which method for detecting aneuploidy in eggs had the highest incidence?

A

CGH

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21
Q

PSSC in sperm leads to ________, normal and ____________ spermatozoa

A

Disomic; nullisomic

22
Q

True non-disjunction in sperm leads to ___________ and _______________ spermatozoa

A

Disomic; nullisomic

23
Q

Which methods are used to observe aneuploidy in sperm?

A

FISH and karyotyping

24
Q

What are other methods to observe human aneuploidy?

A

SKY and NGS

25
Q

FISH technology uses a probe __________ labelled with fluorescent dye

A

DNA

26
Q

Which four methods are used for detection of chromosomal copy number variation?

A

FISH, CGH, aCGH and SNP

27
Q

Abnormal fertilized embryo shows _______ pronuclei instead of __________

A

Three; two

28
Q

Digynic triploidy is characteristic of _____________ of a second polar body

A

Suppression

29
Q

What is a mosaic embryo?

A

A mix of normal and abnormal cells

30
Q

Mitotic error occurs in which stage of mosaic embryo formation?

A

2-cell stage

31
Q

Mosaicism is the presence of one or more genetically distinct cell lines within an ___________

A

Embryo

32
Q

Mosaicism is generated from a post ___________ error in an originally ___________ zygote

A

Zygotic; diploid

33
Q

What is trisomy zygote rescue?

A

Post zygotic error in an originally aneuploid zygote that leads to loss of one chromosome

34
Q

Uniparental disomy results in an embryo carrying _________ parent’s gamete

A

One

35
Q

What percent of FISH results showed mosaic cells?

A

47%

36
Q

What are the two types of mosaic cells in blastocyst?

A

dp (polyploid) and da (aneuploid)

37
Q

A good quality blastocyst has a ______________ percent of polyploid cells than a bad quality blastocyst

A

Lower

38
Q

Which mechanisms are behind gain and loss error?

A

Non-disjunction, anaphase lag, chromosome demolition, chromosome replication

39
Q

Abnormal cells are allocated to the ______________

A

Trophectoderm

40
Q

Meiotic mosaicism often have adverse effect on the conceptus such as ____________ zygote rescue due to the presence of ___________ in the embryo/fetus

A

Trisomy; UPD

41
Q

In the case of trisomy 16, the fetus _______

A

Dies

42
Q

What is the most common trisomy after trisomy 16?

A

Trisomy 21 and 22

43
Q

Which trisomies are seen in live-born apart from sex chromosome abnormalities?

A

Trisomy 21, trisomy 13, trisomy 18

44
Q

Edward syndrome (Trisomy 18) is characterized by a _________ sternum, overlapping fingers with clenched __________ and _____________

A

Short; fists; clubfoot

45
Q

Patau syndrome (Trisomy 13) is characterized by defects of the __________, cleft _______ and palate and closely spaced ________

A

Brain; lip; eyes

46
Q

What are some sex chromosome abnormalities?

A

Turner syndrome (XO), Klinefelter syndrome (XXY), triple X, XYY

47
Q

What are some effects of Turner syndrome?

A

Short stature, broad chest, poor breast development

48
Q

Klinefelter syndrome affects one in 660 __________

A

Men

49
Q

What is the medical treatment for Klinefelter syndrome?

A

Testosterone replacement therapy

50
Q

What are some features of people with Klinefelter syndrome?

A

Tall stature, increased risk of learning disabilities, delayed development of speech and language skills and normal fertility

51
Q

What produces 47,XYY?

A

Parental non-disjunction at meiosis II resulting in an extra Y chromosome in sperm

ANAT 381 Experimental Embryology (24 decks)

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