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What is crossing over?
Occurs during meiosis between nonsister chromatids in a tetrad. The chromatids exchange genetic material
How many pairs of chromosomes (and total number) do humans have?
23 pairs, 46 total
How many chromosome pairs are autosomes?
22
How many chromosome pairs are sex chromosomes?
1 (X and Y)
Female Sex Chromosome
XX
Male Sex Chromosome
XY
What are sex linked traits?
Traits that are controlled by genes on the sex chromosomes
X-linked recessive disorders and examples
More males than females will have the disorder
recessive allele on the X chromosome is always expressed in males
Y chromosome lacks an allele for the disorder
EX: colorblindness, fragile X syndrome, Hemophilia
X-linked dominant disorders and examples
Only a few are known
Affected males pass the trait only to daughters who have a 100% chance of inheriting the disorder
Females can pass the dominant allele to both sons and daughters
EX: incontinentia pigmenti
Nondisjunction
A failure of the chromosomes or sister chromatids to separate during cell division—results in trisomy or monosomy when fertilized
Kayotype
Chromosomes arrange by pairs according to their size and general apperance. Chromosomes are numbered and arranged in pairs from the largest to the smallest
What is trisomy 21?
Down Syndrome—most common autosomal trisomy among humans. Easy to recognize (physical features). Diagnosis possible via kayotyping
What is the process of making eggs called?
oogenesis
What is the process of making sperm called?
spermatogensis
Example of Sex Chromosome Disorders
Jacob’s Syndrome: XYY males result from nondisjunction during spermatogensis. Usually taller, suffer from persistant acne and tend to have speech and reading abnormalities. Typically there are no behavioral differences.
Deletions
occurs when a break causes a chromosome to lose an end piece or when 2 simultaneous breaks lead to the loss of an internal chromosome segment
Syndrome examples of chromosome deletions
William’s Syndrome: children have pixie-like features; poor academic performance but have excellent verbal and musical skills
Cri du Chat: children are mentally impaired with facial abnormalities, their cries are said to sound like a cat’s
Duplication
Chromosomal segment is repeated in the same chromosome or in a non-homologous chromosome
Inversion
The segment joins in an opposite direction from normal
Or the segment is rotated 180 degrees
Translocation
The exchange of chromosomal segments between 2 non-homologous chromosomes