Karyotype Worksheet

HeLa simply stands for Henrietta Lacks, a young mother in the 1951 who went to the doctor complaining of vaginal bleeding and discovered she had cervical cancer. Henrietta’s cells were taken for a biopsy and were found to be like nothing ever seen before; her cells were immortal. Her cancer cells double every 20 to 24 hours and have lived on for the past 60 years. Since HeLa cells were created, our world of modern medicine has been completely changed. We now vaccines for once incurable diseases and have used the cells for cloning and other biomedical research. Although the cells have done a great deal of good,

a doctor around the hospital will order a special blood test called a karyotype. This test counts the number of chromosomes, this test can also identify any that are abnormally shaped or have some missing pieces.

Many of today’s major vaccines would not have been possible without the ever so famous HeLa cells. These cells have a very unique trait that makes them immortality. Although they sound like something straight out of science fiction, they come from an actual woman named Henrietta Lacks who was diagnosed with stage 4 cervical cancer. Although her cells went on to be world famous, Henrietta lived a life of inequality because of her race, gender, and socio-economic class throughout her short lifespan.

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

Of the four karyotypes observed, only one was normal. The normal karyotype was the karyotype displayed in Figure one. There were 23 sets of chromosomes, each set containing two chromosomes. There were two karyotypes with an extra chromosome. The karyotype in Figure three had an extra chromosome 21 and the karyotype in Figure four had an extra chromosome 23. There were also two karyotypes displaying an absent chromosome. The karyotype in Figure four was missing a chromosome seven and the karyotype in Figure five was missing a chromosome 23.

TEKS: 3.13 A: Students will identify the details or facts that support the main idea.

Trisomy 18 and 13 began to appear in literature in the early 1960's. During this time both of these diseases were considered fatal. A majority of the documented information obtained on these chromosome disorders was gathered from case studies. Even to the current day, these are very deadly syndromes that often kill within the first year of life but due to medical advances can now have life sustained (Nelson 2012). In a study from 1968 some of the clinical features of Edwards syndrome include an elongation of the

All cancers arise as a result of changes that have occurred in the DNA sequence of the cell genomes, occurring through chromosome abnormalities (Stratton, Campbell, and Futreal, 2009). Chromosomes are made up of tightly wound DNA and proteins which form a highly condensed tertiary structure. Chromosomal abnormalities are a prominent characteristic of cancer cells, often resulting from nondisjunction, the failure of chromosomes to separate properly during meiosis (Peña-Diaz et al., 2012). Nondisjunction results in cells that have too many or too few chromosomes. A normal human karyotype would contain forty-four autosomes and two sex chromosomes; each chromosome has a homologous pair. Females

Disorder. In which there is a extra X chromosome in 80% in the patients. The disorder occurs in every 500 to 1000 male births and the best way to diagnose it is by a buccal smear. (http://www.webmd.com/men/tc/klinefelter-syndrome-topic-overview#1)

Normally the baby is conceived with the usual 46 chromosomes. Then during cell division the chromosomes are divided into half the egg, and half the sperm, which end up with 23 chromosomes each. Although and error can occur during Monosomy is where the complete sex chromosome is missing, because of the fathers sperm or even the mothers egg. Mosaicism is when an error occurs in cell division in the early stages of fetal development and leads to cells in the body having two complete copies of the X chromosome, while others having only one copy of the X chromosome (Mayo Clinic, 2017). If there is a fully developed X chromosome and partial of a Y chromosome then the individual will develop as a female, with the risk of developing a type of cancer called gonadoblastoma. 45,X/46,XY affects a small percentage of girls with Turner's; small fragments of Y chromosome are in their cells, which can increase the risk of developing tumors, along with gonadoblastoma, in their internal sex organs. Deltion, ring chromosome, and isochromosome are different types of variations of Turner's Syndrome. Deletion is when the X chromosome is missing some of its genetic material. Ring chromosome is where there is two X chromosomes, but one is shaped like a circle with the ends joined. Along with isochromosome which is the X chromosome has two long arms instead of a long and short arm. (Turner's Syndrome Society,

What klinefelter syndrome? Klinefelter syndrome is a random mutation that happens during the sex cells reproduction. It's caused one extra copy of the X chromosome in each cell (xxy), the most common cause. An extra x chromosome in some of the cells (mosaic klinefelter syndrome), with fewer symptoms. More than one extra copy of the chromosome, which is rare and results in a severe form. Error in cell division, called nondisjunction, results in a egg or sperm cell with extra x chromosome mosaic klinefelter syndrome is caused by random mutation during fetal development.

Every year, approximately 3000 babies in America are born with Klinefelter Syndrome. Klinefelter syndrome, a genetic disorder known as XXY, is the most common sex chromosome disorder. Klinefelter occurs when the presence of at least one extra X chromosome is in each of the cells. Because chromosomes, contains all the genes and DNA, are building blocks of humans bodies, they are extremely crucial in determining the structure and traits of each individuals. Besides the physical changes that Klinefelter patients experience, the mentally impact they have to deal with daily is equally challenging.Klinefelter Syndrome causes many complex changes in the humans’ genes, severe effects as well as complications not only on the patients' physical bodies, but also on their mental health through dt age groups ; however, due to many advances in the medical fields, doctors are now able to use different effective methods to treat those who have this disease.

After karyotyping through amniocentesis, our team of obstetricians and cytogeneticists have identified a non-disjunction. This was done through taking a sample of amniotic fluid containing fetal skin cells and placing it in a laboratory dish with chemicals and hormones to allow the cells to divide rapidly. After a week, we applied colcemid, a drug that stops mitosis at the metaphase stage. Various other chemicals were then applied to swell the cells at the metaphase stage of mitosis and the cell was placed in a microscope slide to dry. Gimesya dye was then applied to identify the different chromosomes in the cell and a picture of the stained chromosomes was taken. The chromosomes were arranged by size, which were then analyzed.

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of

From table 1 it is observed that normal karyotype is 194 (84%) and abnormal karyotype is 37 (16%), out of which numerical is about 16 (43%), XY female and variants 8 (22%) and structural 13 (35%). The most commonly observed karyotypes were 45,X/46,XX (12/75%) under numerical abnormality, 46,XY female (4/50%) under XY female and variants and 45,X/46,X,i(Xq) (4/30.7%) and 46,X,i(Xq) (3/23.1%) under structural abnormality.