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Chromosomes & Cytogenetics
Structure, functions, abnormalities
72
Biology
Undergraduate 4
06/29/2013

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Term
This is the normal male karyotype for the human male species
Definition
(46, XY)
Term
True or false, from the karyogram you can determine the karyotype
Definition
True
Term
Most chromosomal problems or defects occur here during meiosis
Definition
During gamete formation while crossing over is occuring in prophase 1 of meiosis
Term
The DNA content of a genome is designated by what letter
Definition
Letter (C)
Term
These chromosomes have there centromere between the middle and the telomere
Definition
Submetacentric chromosomes
Term
What is the term describing normal poidy in cells?
Definition
Euploid
Term
The DNA content of normal haploid cells is  what?
Definition
(1C, 1n)
Term
A cell having a multiple of 23 chromosomes is said to be what?
Definition
Euploid
Term
This refers to the tail of a chromosome
Definition
The telomere
Term
These chromosomes have there centromere near a telomere
Definition
Acrocentric chromosomes
Term
This portion of the chromosome is termed the small arm (p)?
Definition
The portion located above the centromere
Term
Can polyploidy be found in isolated tumors?
Definition
Yes
Term
True or false, every chromosome has a banding pattern?
Definition
True
Term
The chromosome number of a genome is designated by what letter?
Definition
Letter (n)
Term
True or false, most somatic cells are haploid (1C, 1n)?
Definition
False, most somatic cells are diploid (2C, 2n), this is because they contain two copies of the human genome
Term
Each chromosome is divided into regions labeled p1, p2, p3, etc. and q1, q2, q3, etc., and count outwards from this point (this point is also called the starting point)
Definition
The centromere
Term
This is the site of attachment of the spindles during cell division
Definition
The centromere
Term
The DNA content of normal diploid cells is what?
Definition
(2C, 2n)
Term
This is an image showing the chromosomes of a cell sorted acording to size and arranged in pairs, with the sex chromosomes placed in the lower right portion
Definition
A karyogram
Term
These are all acrocentric chromosomes
Definition
Chromosomes # 13, 14, 15, 21, 22
Term
True or false, gametes are haploid (1C, 1n)?
Definition
True
Term
These chromosomes have arms are of equal length
Definition
Metacentric chromosomes
Term
This is the normal female karyotype for the human female species
Definition
(46, XX)
Term
In what phase are the chromosomes arrested in order to study them in a karyogram?
Definition
Metaphase of mitosis
Term
This is used to arrest the cells in metaphase by cutting the spindle fibers
Definition
Colcemide
Term
The location for this arm is called p for petit
Definition
Short arm
Term
The location for this arm is called q for queue
Definition
Long arm
Term
This is designated cen
Definition
The centromere
Term
This is designated ter
Definition
The telomere
Term
What are the two purposes of G-banding (Giemsa banding)
Definition

1. Identification of each individual chromosome

2. For the diagnosis of numerical and structural abnormalities

Term
This portion of the chromosome is termed the long arm (q)
Definition
The portion below the centromere
Term
This is defined as the addition of a complete haploid set to the cells of an individual
Definition
Polyploidy
Term
What are the two types of polyploidies?
Definition

1. Triploidy (3n)

2. Tetraploidy (4n)

Term
Cells that contain 3 copies of each chromosome are said to be what (these cells have a total of 69 chromosomes)?
Definition
Triploid
Term
How do cells usually become triploid?
Definition
By fertilization of an ovum (haploid) by two sperm cells (both haploid)
Term
True or false, triploidy is lethal
Definition
True
Term
This is the term to cells that contain 4 copies of each chromosome (they contain a total of 92 chromosomes)
Definition
Tetraploidy (4n)
Term
True or false, tetraploidy is not very lethal
Definition
False
Term
Which condition is rarer tetraploidy or triploidy?
Definition
Tetraploidy
Term
Having a third copy of one chromosome is called what?
Definition
Trisomy
Term
What are the three theories of how triploidy occurs?
Definition

1.) 1 haploid egg + 2 haploid sperm cells

2.) 1 diploid sperm + 1 haploid egg

3.) 1. diploid egg + 1 haploid sperm 

Term
This is a triploidy and occurs due to two haploid sperm cells fertilizing one normal haploid egg resulting in the egg developing with 69 chromosomes instead of the normal 46
Definition
Partial molar pregnancy
Term
This syndrome is characterized by severe mental retardation
Definition
Edwards Syndrome
Term
This is the summary of the chromosome constitution of a cell or person, such as 46, XY or 46, XX
Definition
The Karyotype
Term
This is defined as having three copies of a specific chromosome instead of having the normal 2 copies of each
Definition
Trisomy
Term
Which abnormalities are more lethal, autosomal abnormalities or sex chromosome abnormalities?
Definition
Autosomal abnormalities
Term
Which autosomies survive to term?
Definition
Trisomy 13, 18, 21 (T13,T18,T21)
Term
Does sex chromosomal abnormalities produce individuals who are structurally abnormal?
Definition
No
Term
Trisomy is more related to what?
Definition
The age of the mother
Term
True or false, mosaic people can have a mutation in some of their cells while the rest of there cells are completely normal
Definition
True
Term
This is the single most common genetic cause of moderate mental retardation
Definition
Trisomy 21 (Down Syndrome)
Term
This is the loss or gain of specific chromosomes
Definition
Aneuploidy
Term
Most trisomies occur because of this in meiosis during gamete formation in the parents
Definition
Non-disjunction of chromosomes
Term
What is non-disjunction?
Definition
Non-disjunction is where the chromosomes fail to seperate in meiosis 1 or meiosis 2 like they should
Term
Which syndrome is characterized by trisomy 18?
Definition
Edwards syndrome
Term
What determines if a mosaic person phenotypically expresses a mutation?
Definition
The organ affected
Term
This is the most common and best known of all the chromosomal disorders
Definition
Down Syndrome (Trisomy 21)
Term
These people have patches of tissue that differ genetically form the rest of their body due to a mutation or chromosomal anomaly that arose early in embryological development
Definition
Mosaic People
Term
True or false, trisomies only arise from non-disjunction
Definition
False, trisomies can also arise from translocations or mosaicisms
Term
These are abnormalities involving the X and Y chromosome
Definition
Sex chromosomal aneuploidies
Term
Triploidy is more related to who?
Definition
The father
Term
This is defined as having only one copy of a specific chromosome instead of having the normal 2
Definition
Monosomy
Term
What are three potential medical complications in down sydnrome?
Definition

1. Leukemia

2. Alzheimer's

3. Heart Defects

Term
True or false, sex chromosomal abnormalities tend not to abort
Definition
True
Term
Which syndrome is characterized by trisomy 13?
Definition
Patau Syndrome
Term
What are the two types of aneuploidy that both occur during gamete formation
Definition

1. Trisomy

2. Monosomy

Term
Which syndrome is characterized by (45 X)?
Definition
Turner Syndrome
Term
This syndrome is seen in males with an extra X chromosome
Definition
Klinefelter Syndrome
Term
Which results in more problems non-disjunction during meiosis 1 or non-disjunction during meiosis 2?
Definition
Non-disjunction during meiosis 1
Term
Which syndrome is characterized by trisomy 21?
Definition
Down syndrome
Term
What is the most likely explanation for the observation of dominant mutations in multiple children of unaffected parents?
Definition
Mosaicism
Term
This can be due to a mosaicism (trisomy 21 in this situation) in the brain cells
Definition
Alzheimer's
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