Klinefelter's Syndrome

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

Modern medicine now relies more and more on genetic science, so the demand for health care professionals who can assess and communicate these health issues is significantly increasing. This is because public awareness is growing in conjunction with scientific advances in reproductive technologies. Health care consumers now want genetics specialists who can provide highly accurate and advanced consultations regarding their unique genetic conditions. Most genetic counselors work with couples or single mothers who

The chromosomal abnormality that appears in the karyotype in Figure four is an extra chromosome 23, which happens to be an X chromosome. This abnormality originated from the mother because nondisjunction

Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexual development and the ability to have children. Other features of this condition that can vary among women who have turner syndrome include: extra skin on the neck, heart defects, puffiness or swelling on the hands and feet, and/or kidney failure.

Genetic counseling is for older child bearing mothers seeking counseling for the best course to take with giving birth. In most cases this is for older women who are becoming mothers. It is common that the baby could be born with a hereditary disorder and genetic problems due to the mothers high chromosomal abnormalities. As a young mothers pregnancy it is 1 in every 200 pregnancies to have this problem, for older mothers the rate is 1 in every 20 pregnancies. (schonberg&tifft, 2007) Some disorders for the baby are common and controllable, such as blood disorders. But there is also high risk of premature birth or miscarriage. These extra genes include diseases like cystic fibrosis, muscular dystrophy, Huntington disease, and nervous system

It is stressful to think about inherited diseases or genetic conditions that run in the family. Just thinking about putting myself in that situation is emotionally draining. I cannot imagine those people who deal with that kind of circumstances in real life. This makes me wonder whether there is an interventions offered by clinical genetics services to minimize the emotional burdensome to patients. I believe that genetic services and counseling would probably be beneficial for this type of situations. Genetic Alliance is a great program that provides support to families affected individuals and families , so they can better understand their available resources, information, and support that will help them access to quality services (Romelczyk

Kinefelter syndrome is a genetic condition that occurs in men as a result of an extra chromosome. The most common symptom is infertility. Humans have 46 chromosomes, which contains all of a person's DNA and genes. Two of which that determines a persons gender. Kinefelter syndrome is the result of one extra X written as XXY. Some of the cells in a male's body have an additional x chromosome. It is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. Women who have pregnancies after the age of 35 have a slightly increased chance of having a boy with this syndrome. Males who have Kinefelter syndrome may have the following symptoms: small firm

In 1886 Progeria disease was described by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford in England. Later they named the disease after the two doctors that discovered it, "Hutchinson-Gilford Progeria Syndrome". Many Doctors didn’t really try to research more into it since it’s a very rare disease that only affects one in four to eight million newborns. Many doctors didn't know about it and started to take more interest and trying to figure out what was Progeria and why it happens. It wasn’t until the 1900's that they actually started to do more research.

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)

“[Twenty-five] Important Klinefelter Syndrome Statistics. Klinefelter syndrome [KS] is a genetic chromosomal condition that affects only men.” (healthsearch funding.org.) Klinefelter Syndrome causes changes to their cognitive and physical development.The Klinefelter syndrome affects a lot of sex characteristics the origin of this syndromes discovery was in 1442 by a doctor named Harry Klinefelter and his co-workers when they first described the features that is known as Klinefelter Syndrome. Klinefelter syndromes symptoms are diagnosed according to what causes Klinefelter syndrome. The syndrome is not inherited it is a random mutation. Doctors after diagnosis, will prescribe/suggest treatment that will not get rid of the syndrome. Klinefelter syndrome is generally found in any age of the male sex.

Pseudovaginal Perineoscrotal Hypospadias, abbreviated as PPSH, is an extremely rare inherited abnormality that only affects males. It is also known as 5-alpha reductase deficiency and is a disorder of sex development. Affected males are born with the normal XY and a full set of 46 chromosomes, however, are born appearing physically female due to their abnormal genitalia. In several cases, these males have been mistaken to be female and and raised following that gender norm. Upon reaching puberty, these males began to develop masculine features like a deepening voice and increase in muscle instead of breasts developing and menstruation beginning. Afterward, it was realized that these affected males were not females as the penis begins to

My brother Jett Balanay was diagnosed with Klinefelter Syndrome. Klinefelter Syndrome is a genetic condition in which a male is born with an extra X chromosome. Instead of the normal forty-six X,Y chromosome of a male, Jett has forty-seven chromosomes which are X,X and Y. In my previous research I provided information about Klinefelter Syndrome, the signs and symptoms, the history of Klinefelter Syndrome, and a list of health care providers that are available to help treat males with Klinefelter Syndrome. This paper will provide detailed information about the three major facets when addressing treatment for males with Klinefelter Syndrome. The three major facets are hypogonadism “diminished hormonal or reproductive functioning in the testes or the ovaries,” gynecomastia “abnormal enlargement of the breast in a male,” and psychosocial problems “of or relating to the interaction between social and psychological factors” (Dictionary, 2015)

Kartagener’s syndrome is a rare hereditary genetic disorder. This disorder affects the respiratory tract, middle ear, fallopian tube, and the flagella of sperm cells. This disorder starts in the embryologic phase of development. The diagram shows you the main internal structure and anything missing or deformed in the central microtubules to the dynein arms causes the protein to not properly link together.

The scientist I decided to write about is Edward Jenner who lived from 1749-1823. He was born in Berkeley, Gloucestershire, England (The Jenner Institute, 2015). His father was a preacher and died when Edward was five years old, orphaning Edward (Famous Scientists, 2015, Riedel, 2005). He went to school in Wotton-under-Edge and Cirencester (The Jenner Institute, 2015). While he was attending school, his older brother inoculated him for a disease called smallpox when he was only eight years (Adler, 2004, The Jenner Institute, 2015). When Jenner was 14 years old, he studied under a surgeon, Daniel Ludlow, for 7 years where he learned about surgical and medical practice (The Jenner Institute, 2015, Riedel, 2005). In the year 1770 at the age of

The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.