Pedigree

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1
Monosomy
(2n-1) Missing a chromosome
2
Trisomy
(2n+1) Has extra chromosome
3
Nondisjunction
Failure of chromosomes to separate
Common during meiosis
4
Turner Syndrome
One sex chromosome (x or xo)
Sex-Linked Recessive
5
Klinefelter Syndrome
Males have one Y and two+ X
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Poly-X
Females have 3+ X chromosomes
7
Jacobs Syndrome
XYY, Males with two Y instead of one
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Williams Syndrome
Chromosome 7 deletion
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Cri du chat syndrome
Chromosome 5 deletion
10
Alagille syndrome
Chromosomes 2 and 20 swap segments
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How many chromosomes do humans have?
23 pairs of chromosomes
46 total
22 autosomes, 2 pairs of sex chromosomes
12
Centromere
Constricted region of linear chromosomes (middle)
They keep chromosomes alignned
13
Telomere
Located at ends of linear chromosomes
They protect the ends of chromosomes
14
Chromosome
Thread-like structures (the X)
Keeps DNA tightly wrapped
15
Karyotype
Complete set of chromosomes
16
Karyotype Notation
FIRST total # of chromosomes
THEN sex chromosomes
FINALLY any extra (+) or missing (-) chromosomes

47,XY,+18
46,XX
47,XXY
17
Sister Chromatids
Two copies of chromosome joined together by centromere
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Histones
Proteins that package / organize DNA into coiled structures called chromatin
19
Autosomes
Chromosomes that dont determine sex
20
X-Linked Traits
Carried on X chromosome and are more common in males than females
21
2n (Diploid number)
The total number of chromosomes in a somatic cell
22
Color Blindness
X-Linked Recessive
23
Muscular Dystrophy
X-Linked Recessive
24
Hemophilia
X-Linked Recessive
25
Fragile X Syndrome
X-Linked Dominant
26
Autosomal DOMINANT
One of the parents will have trait
Equally affects both genders
Will not skip a generation
Aa or AA for Females, A for males
27
Autosomal RECESSIVE
Can skip a generation
Neither parent required to have the trait
Both parents are equally likely to be affected
aa for Females, a for Males
28
X-Linked DOMINANT
One of the parents will have trait
Females most common
Will not skip a generation
XAXa or XAXA for Females, XAY for Males
29
X-Linked RECESSIVE
Can skip a generation
Neither parent required to have the trait
Men most common
XAXa for females, XaY for males
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