Dr Kamyab Shahmiri Dear Mr and Mrs By the process of Karyotyping we can determine the number of chromosomes the individual has. The process of Karyotyping is pairing and ordering all the chromosomes of an organism, providing it with a genome-wide photo of homologous chromosomes of the individual’s cell (karyotype). The way that this is done is that a cell sample is collected and it stops the cell division during metaphase (in mitosis). Then the sample is stained, which produces a banding pattern on the chromosomes that is visible under a microscope.
Now with this information we can reveal changes n chromosome number associated with aneuploid (abnormal number of chromosomes) conditions. A normal person, should contain 22 pairs of autosomes chromosomes (total 44) and also 1 pair of sex chromosomes (xy=male, xx=female) making it a total of 46 chromosomes. Any person having a higher or lower number of chromosome definitely has a syndrome depending to which number of pair is extra or has one missing. After seeing your child’s karyotype, we sadly noticed that your unborn children has an extra sex chromosome in the form of an X chromosome, resulting in the presence of 47 overall chromosomes.
The reason this happened is hat by a mistake during meiosis (cell division that produced egg and sperm cells). By an error in the cell division (nondisjunction) an egg or sperm cell can have an extra copy of an X chromosomes. This phenomenon is referred to as Klinefeter Syndrome (XXY), which gives male babies some female characteristics. Although there is not so much to be worried about since this syndrome is not as bad as the other syndromes such as Down or Patau Syndrome ones and your child’s life expectancy is not affected.
Common general characteristics of Klinefer’s is an above average height, a decrease in muscle control and also infertility. As a baby, his strength will be below average. As he ages and reaches puberty, the traits of Klinefter’s will become more evident and his testosterone level will be below average. Physical characteristics during puberty include broader hips, less facial hair, and less muscular body, compared to healthy babies. During his teenage years he will not be very energetic, and development a mild case of gynocomastia (swollen breast tissue) and weaker bones is often noticed. For the treatment of this disease.
The earlier this syndrome is recognized and treated, the more it is that this symptoms can be reduced or liminated. Therefor, it is good that we know that your child has this disease from now. One of the symptoms of this syndrome is the low testosterone level. The treatment for it is the testosterone replacement which should begin at the beginning of the puberty. This will increase the facial hair and increase the strength and build a more muscular body. The other treatment is for gynaecomastia. The treatment for males with the Klinefelter syndrome is troubling although sometimes men choose to have surgery to remove the breast tissue.
I think the worst symptom of this syndrome s the infertility but you don’t have to worry about it that much. These days, there are some good developments in the treatment of infertility. Developments in microsurgical techniques and advances in artificial reproduced technologies allowed lots of patients with the Klinefelter syndrome to have their own children and I am sure that by the time your child is going through puberty the technologies are even more advanced. Works Cited 1. Chen, Harold. “Klinefelter Syndrome Treatment & Management. ” Klinefelter Syndrome Treatment & Management. N. p. , 22 Feb. 2013. Web. 01 Dec. 2013.. 2. Collin, Debra. Genetics Glossary. Genetics Glossary. N. p. , n. d. Web. 1 Dec. 2013.. 3 “Genetic Testing. ” Britannica School. N. p. , 1 Dec. 2013. Web.. 4. Kenny, Dr Tim. “Klinefelter’s Syndrome. ” Patient. co. uk. N. p. , 01 Apr. 2013. Web. 02 Dec. 2013.. 5. O’Connor, Clare. “Karyotyping for Chromosomal Abnormalities. ” Nature. com. N. p. , 2008. Web. 1 Dec. 2013.. 6. Utiger, Robert D. “Klinefelter Syndrome. ” Britannica School. N. p. , n. d. Web. 1 Dec. 2013.. 7. “What Are the Treatments for Symptoms in Klinefelter Syndrome (KS)? ” What Are the Treatments for Symptoms in Klinefelter syndrome (KS)? N. p. , 11 NOV. 2013. web. 01 Dec. 2013..