Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MCP Unit 7 > Ploidy > Flashcards

Ploidy Flashcards

1
Q

euploidy

A
  • multiples of one complete chromosome compliment
  • N, 2N, 3N, 4N
  • haploid, diploid, triploid, tetraploid
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

aneuploidy

A
  • gain or loss of chromosomes equaling less than one complete complement
  • trisomy 13- 47, XX, +13
  • monosomy 8- 45, XY, -8
  • sex chromosomes
  • 45X, 47 XXY
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

nomenclature

A

number of chromosomes, sex chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

mosaicism

A
  • gain of trisomy if non-disjunction from zygote, or loss of trisomy
  • presence of at least 2 different cell lines with at least one clear variation between them
  • numerical changes 45, X and 46, XX
  • structural change- one cell line with a translocation that doesn’t occur in the other
  • mosaicism is acquired, can’t be inherited- because zygote is 1 cell
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

chimera

A
  • cells fuse and then keep diving

- vs one cell getting a mutation that is propagated in the organism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

viable autosomal trisomies

A
  • 21,
  • patau- 13
  • edwards 18
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

down syndrome

A
  • multiple system defects
  • heart, lung, brain, endocrine system, susceptibility to infectious disease, increased risk of leukemia
  • high freq of AD
  • more problems may arise as individual ages
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

trisomy 13

A
  • punched out scalp
  • rocker bottom feet
  • polydactyly
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

trisomy 18

A
  • grow, but don’t develop

- hand sign

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

klinefelter syndrome

A
  • 47, XXY
  • 1/1000 male live births
  • 50% due to meiosis I error in father
  • tall
  • interfility
  • some female characteristics may develop
  • learning deficit possible
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Turner syndrome

A

45, X

  • half have that karyotype
  • 15% have deletions or rearrangements of X
  • 10 % mosaics- 45X/46,XX or 45X/46XY
  • if have XY may be male or female phenotype
  • male phenotype usually ok
  • female- high probability of problem: increased risk of gonadoblastoma- recommendation to remove gonads
  • diagnosis important
  • cases can range from mild to severe, prenatal counseling can be difficult
  • remove gonads if gonadoblastoma is an issue
  • other problems may occur with time
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

XXX female

A
  • 1/1000 female live births
  • usually due to maternal meiosis I error
  • average to tall stature
  • learning deficit possible
  • some fertility problems possible
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

XYY male

A
  • 1/1000 live births
  • failure of paternal meiosis
  • tall stature
  • normal intelligence
  • normal fertility
  • clinically indistinguishable from 46, XY
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Turner syndrome issues

A
  • growth hormone
  • monitor for heart malfunctions
  • karyotype to check for Y chromosome
  • counseling for probably infertility- donor egg
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

XY female

A

1/ 20,000 live births

  • androgen insensitive
  • phenotypically normal female with testes
  • infertility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

XX “male”

A
  • congenital adrenal hyperplasia
  • autosomal recessive condition
  • mutation results in overproduction of androgens in female fetus
  • in utero exposure causes virulization of fetus
  • normal ovaries and internal genitalia
  • ambiguous external genitalia
  • can be due to CAH in mother or fetus
17
Q

XX male

A
  • 1/20,000 live births
  • X-Y recombination near pseudoautosomal region
  • usually normal, possible klinefelter phenotype
  • reciprocal translocation is replaced by Xp material which is transmitted to a child results in a turner female phenotype with and apparent 46, XY karyotype
18
Q

XY gonadal dysgenesis

A
  • 46, XY disorder of sex development

- 46, XY complete gonadal dysgenesis

19
Q

46, XY disorder of sex development

A

male or female

  • 46, XY karyotype
  • ambiguous genitalia with mild to severe penoscrotal hypospadias with or without chordee
  • dysgenetic testes
  • reduced to no sperm production
  • mullerian structures that range from absent to presence of a fully developed uterus and fallopian tubes
20
Q

46, XY complete gonadal dysgenesis

A
  • 46 XY karyotype
  • normal female external genitalia
  • completely underdeveloped streak gonads
  • no sperm or egg production
  • presence of normal mullerian structures
21
Q

structural abnormalities

A
  • deletion
  • duplication
  • translocation
  • inversion
22
Q

balanced

A
  • all material is present but rearranged

- some of the material is missing or duplicated

23
Q

deletion

A
  • loss of a part of a chromosome
  • leads to a partial monosomy
  • terminal or interstitial
  • loss of one or more genes usually leads to clinical abnormalities
  • small deletions may be tolerated with minimal clinical abnormalities
  • large deletions typically associated with developmental delay, mental retardation, abnormal features
  • size is not as important as which genes and how many are missing
24
Q

wolf-hirschhorn syndrome

A
  • 4p deletion
  • short stature
  • developmental delay
  • greek helmut face
25
Q

karen

A
  • 11 q deletion

- de novo interstitial

26
Q

duplication

A
  • additional copy of a chromosome segment
  • partial trisomy
  • terminal or interstitial
  • cornelia de lange no longer duplication
  • 3q29 micro, 7q11.13, 16p11.2, 22q11.2
    1q21. 1
27
Q

reciprocal translocation

A
  • equal exchange involving two or more chromosomes

- can make balanced or unbalanced

28
Q

balanced translocation

A
  • increased risk that another pregnancy will have an unbalanced chromosome complement
  • increased risk of infertility or spontaneous fetal loss
  • increased risk for an abnormal live born (10% per pregnancy)
  • relatively common, 1 in 500
  • carriers are usually phenotypically normal
  • translocations can be inherited
  • other members of the family may have the rearrangement
  • can be de novo- if detected prenatally, may not be able to tell if it is balanced or not
29
Q

robertsonian translocation

A
  • centromere to centromere involving acrocentric chromosomes

- can cause trisomy

30
Q

inverstion

A
  • peri (involving centromere) or para centric
  • reversal of a chromosomal segment with respect to normal gene arragement
  • need a loop
  • para can lead to apparent suppression of recombination
  • pericentric need larger circle
  • larger inversion means more viable gametes because smaller inversion leads to a greater risk of unbalanced gametes
31
Q

paternity

A
  • critical to know who the biological father is
  • interpretation of data may reveal that the husband is not the father of the child
  • if the data input is false, interpretation may be compromised

MCP Unit 7 (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions