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66 Cards in this Set
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Nomenclature
Notes: Definition |
Nomenclautre is a short hand method of describing a set of chromosomes. It is important to be precise so that you communicate exactly what you are seeing to someone who does not have the karyotype in front of them |
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Nomenclature
Number of chromosomes, sex chromosomes
Examples
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Female: 46, XX
Male: 46, XY
Mosaic: 45, X/46,XX |
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Nomenclautre
Number of chromosomes, sex chromosomes
Examples |
Female Male Mosaic |
Female: 46, XX
Male: 46, XY
Mosaic: 45, X/46,XX |
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Nomenclautre
Number of chromosomes, sex chromosomes
Human female |
46, XX |
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Nomenclautre
Number of chromosomes, sex chromosomes
Human Male |
46, XY |
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Nomenclautre
Number of chromosomes, sex chromosomes
Mosaic |
45, X/46,XX |
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Nomenclautre
Number of chromosomes, sex chromosomes
46, XY |
Male |
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Nomenclautre
Number of chromosomes, sex chromosomes
46, XX |
Female |
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Nomenclautre
Number of chromosomes, sex chromosomes
45, X/46,XX |
Mosaic |
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Mosaic
Definition |
Different cell lines derived from 1 original cell |
______ ____ ____ ____ from __ ____ ____ |
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Mosaic
Def. |
______________________ from _________ |
Different cell lines derived 1 original cell |
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Mosaic
Def. |
Different cell lines derived from 1 original cell line
Mosaic is different from? |
Chimera |
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Chimeria
It is different from? |
Mosaic
Def. |
Different cell lines derived from 2 or more original cells |
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Chimeria
Def. |
_________ ____ ____ _____ from ___ or ___ _____ _____ |
Different cell lines derived 2 more original cells |
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Chimeria Def. |
Different cell liens derived from 2 or more original cells
Chimeria is different from? Def? |
Mosaic Different cell lines derived from 1 original cell |
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Nomenclature
Numerical anomalies of autosomes
Example Trisomy 13, F |
47, XX, +13 |
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Nomenclature
Numerical anomalies of autosomes
Example Monosomy 8 (M) |
45, XY, -8 |
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Nomenclature
Tirsomy 13 (F) Monosomy 8 (M)
Type of anomalies Type of chromosomes Nomenclature |
Numerical anomalies of autosomes
Trisomy 13 (F): 47, XX, +13 Monosmy 8 (M): 45, XY, -8 |
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Nomenclature
Numerical anomalies of autosomes
45, XY, -8 |
Monosomy 8
Gender |
male |
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Nomenclature
Numerical anomalies of autosomes
47, XX, +13 |
Trisomy 13 Gender? |
Female |
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Nomenclature
Numerical anomalies of sex chromosomes
Only 1 X chromosome |
45, X |
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Nomenclature
Numerical anomalies of sex chromosomes
One extra X chromosome (male) |
47, XXY |
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Nomenclature
Numerical anomalies of sex chromosomes
45, X
Problems? Gender? |
Only 1 X chromosome
Female |
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Nomenclature
Numerical anomalies of sex chromosomes
47, XXY
Problems? Gender? |
One extra X chromosome
Male |
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Is it necessary to indicate a gain or loss of a sex chromosome? |
N
Notes: Why? |
Since all of the sex chromosomes are written in the nomenclature |
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How many types of chromosome structural anomalies? |
4
What are they? |
Deletions Additions Translocations Inversions
Know the acronym |
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4 types of chromosomal structural anomalies
Acronym |
D A T I |
Deletions Additions Translocations Inversions |
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4 types of chromosomal structural anomalies |
Deletions Additions Translocations Inversions |
D A I |
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Nomenclature of chromosome structural anomalies
Formula |
Nomenclature of autosomes and sex chromosomes, type of problem (chromosome) (Breakpoints) |
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Nomenclature of chromosome structural anomalies
Formula |
Nomenclature of _______ and ____ chromosomes, _________ (________) (________ ) |
Nomenclature of autosomes and sex chromosomes, type of problem (chromosome) (Breakpoints) |
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Nomenclature of chromosome structural anomalies
Formula |
Nomenclature of autosomes and sex chromosomes, type of problem (chromosome) (Breakpoints)
Type of problem List |
Deletions: del Additions: dup Translocations: t Inversions: inv |
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Nomenclature of chromosome structural anomalies
Formula Nomenclature of autosomes and sex chromosomes, type of problem (chromosome) (Breakpoints)
Types of problem
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Deletions Additions Translocations Inversions
In nomenclature? |
Deletions: del Additions: dup Translocations: t Inversions: inv |
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Nomenclature of chromosome structural anomalies
Formula Nomenclature of autosomes and sex chromosomes, type of problem (chromosome) (Breakpoints)
Types of problem |
Deletions: del Additions: dup Translocations: t Inversions: inv |
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Nomenclature of chromosome structural anomalies
Normal number of autosomes Female Deletion on chromosome 4 Breaking point: p13.2 |
46, XX, del (4) (p.13.2) |
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Nomenclature of chromosome structural anomalies
Normal number of autosomes Male Additions on chromosome 11 Breakpoint: q11.2q11.3 |
46, XY dup(11) (q11.2q11.3) |
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Nomenclature of chromosome structural anomalies
Normal number of autosomes Male Translocation between 4 and 9 Breakpoint: (q21.2;p22) |
46,XY,t(4;9)(q21.2;p22) |
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Nomenclature of chromosome structural anomalies
Normal number of autosomes Male Inversions on chromosome 9 Breakpoint at p11q21.1 |
46,XY,inv(9)(p11q21.1) |
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46, XY dup(11) (q11.2q11.3) |
Normal number of autosomes Male Addition of chromosome 11 at q11.2q11.3 |
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46,XY,t(4;9)(q21.2;p22) |
Normal number of autosomes male Translocation between chromosome 4 and 9 at q21.2;p22 |
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46, XX, del (4) (p.13.2) |
Normal number of autosomes Female Deletion on chromosome 4 at p13.2 |
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46,XY,inv(9)(p11q21.1) |
Normal number of autosomes Male Inversion on chromosome 9 at p11q21.1 |
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Nondisjunction |
An error in meiosis I results in two copies of a chromosome |
An ____ in _____ ___ results in ___ _____ of a _______. |
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Nondisjunction
Def. |
An _____ in _______ results in ___________ of a ________ |
error meiosis I two copies chromosome |
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Nondisjunction
Def. |
An error in meiosis I results in two copies of chromosomes.
What happens when two gametes (1 normal+1 result from nondisjunction) fertilize? |
trisomy of that copied chromosome |
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What happens when two gametes (1 normal+1 result from nondisjunction) fertilize? |
Trisomy of that copied chromosomes |
______ of that _________ |
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Aneuploidy
Def. |
Gain or loss of one or more chromosomes |
____ or ____ of ____ or ____ ______ |
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Aneuploidy
Def. |
____ or ____ of ____ or __________ |
Gain loss one more chromosomes |
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Aneuploidy
Def. |
Gain or loss of one or more chromosomes
Different types+ brief explanation |
Trisomy: one more Monosomy: One less Sex chromosomes |
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Aneuploidy
Different types |
Trisomy Monosomy Sex chromosomes
Equation for trisomy and monosomy |
Trisomy: 2N+1=47 Monosomy: 2N-1=46 Sex chromosomes |
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Aneuploidy
Trisomy
Equation |
2N+1=47
Formula for trisomy 13, female |
47,XX,+13 |
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Aneuploidy
Monosomy
Equation |
2N-1=45
Forumula for monosomy 8, male |
45, XY, -8 |
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Aneuploidy
Monosomy
One less X chromosome, Female |
45, X |
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Aneuploidy
Trisomy
One extra X chromosome, Male |
47, XXY |
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Euploidy
Def. |
multiples of one complete chromosome complement |
_________ of ____ _____ _______ ______ |
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Euploidy
Def. |
________ of ______________________ |
Multiples one complete chromosome complement |
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Euploidy
Def.
Test |
Multiples of one complete chromosome complement
Different types |
N: haploid 2N: diploid 3N: triploid 4N: tetraploid |
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Euploidy
Different types |
N 2N 3N 4N |
N: haploid 2N: diploid 3N: triploid 4N: tetraploid |
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Euploidy Different types |
haploid diploid triploid tetraploid |
N 2N 3N 4N |
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Euploidy
Different types Test |
N: haploid 2N: diploid 3N: triploid 4N: tetraploid
Example: number of chromosomes in humans |
N: haploid, 23 2N: diploid, 46, 23 pairs 3N: triploid, 69 4N: tetraploid, 92 |
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Euploidy
Different types Example: number of chromosomes in humans |
N: haploid, ___ 2N: diploid, ___, __ pairs 3N: triploid, ____ 4N: tetraploid, ____ |
N: haploid, 23 2N: diploid, 46, 23 pairs 3N: triploid, 69 4N: tetraploid, 92 |
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Euploidy
Different types Example: number of chromosomes in humans |
N: ___________ 2N: _______________ 3N: ________________ 4N: ________________ |
N: haploid, 23 2N: diploid, 46, 23 pairs 3N: triploid, 69 4N: tetraploid, 92 |
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Euploidy
Different types Example: number of chromosomes in humans
Test |
N: haploid, 23 2N: diploid, 46, 23 pairs 3N: triploid, 69 4N: tetraploid, 92
Is triploid or tetraploid compatible with life in human? |
N
But higher levels of ploidy can be normal in other organsism.
Example: dandelion-triploid, wheat - hexaploid |
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Polypoidy
Def. |
More than 2n
example |
Ex. 3n, 4n |
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Polypoidy
Def.
Example |
More than 2n
3n, 4n |
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Review Monosomy
Number of chromosomes |
One less |
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Review Trisomy
Number of chromosomes |
One more |
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