1Monosomy
(2n-1) Missing a chromosome
2Trisomy
(2n+1) Has extra chromosome
3Nondisjunction
Failure of chromosomes to separate
Common during meiosis
4Turner Syndrome
One sex chromosome (x or xo)
Sex-Linked Recessive
5Klinefelter Syndrome
Males have one Y and two+ X
6Poly-X
Females have 3+ X chromosomes
7Jacobs Syndrome
XYY, Males with two Y instead of one
8Williams Syndrome
Chromosome 7 deletion
9Cri du chat syndrome
Chromosome 5 deletion
10Alagille syndrome
Chromosomes 2 and 20 swap segments
11How many chromosomes do humans have?
23 pairs of chromosomes
46 total
22 autosomes, 2 pairs of sex chromosomes
12Centromere
Constricted region of linear chromosomes (middle)
They keep chromosomes alignned
13Telomere
Located at ends of linear chromosomes
They protect the ends of chromosomes
14Chromosome
Thread-like structures (the X)
Keeps DNA tightly wrapped
15Karyotype
Complete set of chromosomes
16Karyotype Notation
FIRST total # of chromosomes
THEN sex chromosomes
FINALLY any extra (+) or missing (-) chromosomes
47,XY,+18
46,XX
47,XXY
17Sister Chromatids
Two copies of chromosome joined together by centromere
18Histones
Proteins that package / organize DNA into coiled structures called chromatin
19Autosomes
Chromosomes that dont determine sex
20X-Linked Traits
Carried on X chromosome and are more common in males than females
212n (Diploid number)
The total number of chromosomes in a somatic cell
22Color Blindness
X-Linked Recessive
23Muscular Dystrophy
X-Linked Recessive
24Hemophilia
X-Linked Recessive
25Fragile X Syndrome
X-Linked Dominant
26Autosomal 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
27Autosomal 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
28X-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
29X-Linked RECESSIVE
Can skip a generation
Neither parent required to have the trait
Men most common
XAXa for females, XaY for males