Changes in Genetic Marerial are known as Mutations from the Latin word (mutatus) meaning “to change”

anything that can cause a mutation is called a mutagen –UV light (sun) –some viruses –X-rays –industrial chemicals –pesticides/weed killers –food additives Mutagen

Mutations in Somatic(body) Cells only effects the individual CANNOT be passed on to offspring

Mutations in Gametes if there is a mutation in your gametes it may be passed on to the zygote if any of the gametes are involved in fertilization, every cell of the offspring will carry the mutation

Chromosomal Mutations Involves changes in the number or structure of chromosomes Nondisjunction –trisomy –monosomy Polyploidy Chromosomal Rearrangements –deletions –insertions –chromosomal inversions

Sex chromosomes Most mammals have one pair of sex chromosomes Males Females

Sex chromosomes Females have two X chromosomes. Males have an X & Y chromosome.

Meiosis During meiosis a female can only produce an egg with an X or an X chromosome. During meiosis a male can produce a sperm with an X or a Y chromosome.

Meiosis & Punnett Square

Normal Karyotype

How nondisjunction can result in abnormalities in the number of sex chromosomes... Female Nondisjunction XXX X XXY Y Female (triple X) Female (Turner’s Syndrome) Male (Klinefelter’s Syndrome) Nonviable XX Eggs X Y XY Sperm Male Sex Chromosomal Mutations

Turner’s syndrome -XO most common sex-chromosome abnormality in females 1 out of every 2500 female births 60,000 females in the U. S. first described in 1938

Turner’s syndrome symptoms Young infants & childhood: swollen hands and feet wide and webbed neck drooping eyelids dry eyes

Turner’s syndrome symptoms Older females: short height infertility - absence of a menstrual period incomplete development at puberty sparse pubic hair and small breasts broad, flat chest shaped like a shield

Possible Complications  Arthritis  Cataracts  Diabetes  Thyroiditis  Heart defects  High blood pressure  Kidney problems  Middle ear infections  Obesity  Scoliosis Alien Autopsy & Turner’s syndrome

Klinefelter's syndrome - XXY 1 in 850 newborn males normal physical appearance until puberty first described by Harry F. Klinefelter in 1942

Klinefelter's syndrome symptoms tall height abnormal body proportions (long legs, short trunk) sexual problems ･ enlarged breasts little pubic, armpit, and facial hair Infertility - underdeveloped gonads

Trisomy X - XXX one in every 1,000 newborn girls girls are born in the U. S. each day Dr. Patricia Jacobs identified the extra X in Trisomy

Trisomy X symptoms appearance similar to Klinefelter’s but female tall stature - low weight varying degrees of androgyny learning disability delayed speech & language skills developmental delays normal sexual development

XYY syndrome (supermale)

1 in 1,000 males first published by Avery A. Sandberg in Buffalo, New York Avery A. SandbergBuffalo, New York1961 increase risk of learning disabilities tall with severe acne aggressive behavior some studies show a higher % of supermales are in prisons normal sexual development and are fertile some medical geneticists question whether the term "syndrome" is appropriate for this condition because its phenotype is normalsyndromephenotype

Cat cry syndrome deletion of chromosome 5 1 in 20,000 to 50,000 live births all ethnic backgrounds slightly more common in females first described by Jerome Lejeune in 1963

Cat cry syndrome symptoms problems with the larynx and nervous system infant sounds just like a meowing kitten feeding problems because of difficulty swallowing low birth weight and hypotonia(low muscle tone) severe cognitive, speech, and motor delays hyperactivity, aggression, tantrums, and repetitive movements unusual facial features which may change over time

Cat cry syndrome symptoms The majority of patients die in early childhood Adults with cat cry exhibit an IQ below 20 a loss of hypertelorism(increased distance between the eyes) and epicanthic(skin) folds development of a thin narrow face with prominent nasal bridge.

Cat cry syndrome symptoms Hypertelorism Epicanthic(skin) folds

Translocation Philadelphia Chromosome (can lead to leukemia) (can lead toleukemia)

Down Syndrome Extra chromosome 21

Down Syndrome In the US, 1 baby in 800 is born with Down syndrome produces mild to severe mental retardation characterized by an increased susceptibility to many diseases

Trisomy 13

Trisomy 13 Conditions Surgical techniques used for cleft lip and palate repair

What is the disorder??? Klinefelter’s Syndrome

What is the disorder??? Trisomy 13

What is the disorder??? Down’s Syndrome

What is the disorder??? Turner’s Syndrome