Karyotyping A picture is taken of chromosomes during mitosis

Karyotyping A picture is taken of chromosomes during mitosis Chromosomes are cut out and grouped in pairs Karyotyping is lining up homologous pairs of chromosomes We know they are homologous pairs because they are the same size and have the same banding pattern on them. (meaning those lines on the chromosomes) Look at the example of a kayrotype in the next slide.

That was a picture of an individual that didn’t have any extra chromosomes or missing chromosomes. Now lets look at a karyotype and you can try and guess if there is anything different about it…

So what did you see on the karyotype?

Down Syndrome Trisomy 21 meaning an extra 21 chromosome Traits of these individuals are: Lower than average mental ability Single crease across the palm Almond shaped eyes

Now look for a difference in the next slide…what is different?

Edwards Syndrome Trisomy 18 (extra 18th chromosome) Traits of these individuals are: severe growth retardation Microcephaly (micro= small, cephaly=brain) malformed ears distinctively clenched fingers

Edwards Syndrome

Now look for a difference in the next slide…what is different?

Patau Syndrome Trisomy 13 (extra 13th chromosome) It is rare for fetuses with this condition to go to term only 1 in 6000 live births. It is rare for babies to survive for very long because of the complications that are usually present. cleft lip Polydactyly of all extremities (meaning extra fingers or toes) Cyclopia (one eye)

Patau Syndrome This baby has a cleft palate, atrial septal defect, inguinal hernia, and postaxial polydactyly of the left hand

Patau Syndrome At 7 years old (survival beyond the first year is uncommon) this boy is deaf and legally blind.

Now look for a difference in the next slides…what is different?

Turners Syndrome Minus one X chromosome Women with Turner’s tend to be shorter than average and are usually unable to conceive a child (infertile) Other possible features of this condition include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems.

Poly- X Syndrome Triple X syndrome may not cause any signs or symptoms. If symptoms do appear, they may include: Tall stature Vertical skinfolds that may cover the inner corners of the eyes (epicanthal folds) Delayed development of speech and language skills Weak muscle tone (hypotonia) Curved pinky fingers (clinodactyly) Behavior and mental health problems Premature ovarian failure or ovary abnormalities Constipation or abdominal pains Definition By Mayo Clinic Staff Triple X syndrome is an abnormality of the chromosomes that affects about 1 in 1,000 females. Females normally have two X chromosomes, one from each parent. In triple X syndrome, a female has three X chromosomes — hence, the name. Triple X syndrome usually results from an error in the formation of a mother's egg cell or a father's sperm cell. Sometimes, triple X syndrome occurs as a result of an error early in the embryo's development. Many girls and women with triple X syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced — possibly including developmental delays. Treatment for triple X syndrome depends on which symptoms, if any, your daughter exhibits and their severity.

Jacobs Syndrome 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father children. 47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand tremors or other involuntary movements (motor tics), and behavioral and emotional difficulties are also possible. These characteristics vary widely among affected boys and men. A small percentage of males with 47,XYY syndrome are diagnosed with autistic spectrum disorders, which are developmental conditions that affect communication and social interaction.

Intersex Condition Other Chromosomes play into the anatomical state of individuals besides the X and Y chromosomes Of these 30 or so genes 3 are located on the X chromosome, 1 on the Y chromosome and the rest are on other chromosomes, called autosomes (on chromosomes 1, 2, 3, 4, 7, 8, 9, 10, 11, 12, 17, 19).

The end

Cat Cry Syndrome or Cri du Chat Syndrome http://www.fivepminus.org/photos.htm

Writing Log Dec. 2, 2005 Not that you could really do this, but IF you could take out some of the genes from another organism and put them into your cells, think of three traits that you would want to add to your traits. Please use complete sentences. Describe the three traits What REAL organisms would you take the traits from? Why would you want these traits?

Writing Log April 12, 2007 Think through the process of meiosis. (You can look at your notes if you need to) What would happen if when a cell was going through meiosis one gamete (egg cell) ended up with too many chromatids? And then it happened to be fertilized?