Klinefelter syndrome, also known as ‘47,XXY’ and
‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder. The frequency of getting affect by
Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent.
SYMPTOMS AT BIRTH AND CHILDHOOD
Birth:
Small Penis
Undescended
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Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter
Syndrome
KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS
GENETICS OF THE DISEASE
While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts.
This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is. Klinefelter syndrome is a chromosomal mutation due to the extra sex chromosome. It is a chromosomal disorder but is still due to the fact that it is random event.
GENETICS OF THE DISEASE
The additional X chromosome I found with the other two sex chromosomes making it a total of 47 chromosomes instead of 46 which leads to the male child's hormonal and sexual related abnormalities as the grow up. Klinefelter syndrome can be diagnosed through a physical examination, chromosome analysis, blood test and semen
In the future, DNA tests will be able to confirm a diagnosis of autosomal dominant PKD before any cysts
Wernicke Korsakoff Syndrome You never think it 's going to happen to you. Nowadays, people don 't even consider what could potentially happen to them during or after the consumption of alcohol. Having the privilege of drinking alcohol is not to be taken advantage of. Wernicke Korsakoff Syndrome is just one of the many diseases that can result from carefree consumption of alcohol.
The medical model looks at a mental illness as a result of physical problems within the body such as genetic faults, a chemical imbalance, or abnormal brain structure. Which means it can be treated medically. For instance there is evidence from brain scans to show that people who live with anorexia have increased activity within the serotonin systems and higher levels of dopamine receptors within the brain (News.bbc.co.uk, 1999). The medical model is the most recognised, most supported and most used when it comes to mental illness.
This condition is more common in boys than it is in girls. It occurs most often in children 3–10 years old. SYMPTOMS Your child may: Complain of pain in the hip, groin, or thigh. Walk with a limp.
In 1942, Dr. Harry Klinefelter and his team first identified the combination of features that are now known as Klinefelter Syndrome (KS).1 By the late 1950s, a group of researchers deduced that men with those features had one extra X chromosome. Although KS is the most common sex-chromosome abnormality, the amount of famous people who identify with this disorder are limited. However, some examples would be Lili Elbe, a transgender Danish painter/model, and George Washington, the first President of the United States. Even though the symptoms of Klinefelter Syndrome may vary depending on the individual, some common signs are: delayed or incomplete puberty, reduced muscle mass, breast enlargement (gynecomastia), reduced hair, infertility (little
Asperger syndrome has a tendency to run in families, but the exact inheritance pattern is unknown. If a parent has Asperger 's, more often than not their child will inherit the disorder, as well. Though living and caring for a person with Asperger 's can be a challenge, there is no evidence that people with the disorder have shorter lives. Many if not most live productive lives independently with jobs and families of their own. There are no occupations that can be considered best or worst for someone with this syndrome.
There is a woman named Elaine, she is the longest living patau syndrome patient ever. She was born and diagnosed with patau thought to have 3 days- 2 months to live, she is now 23 years old and is still surviving patau syndrome. The doctors who diagnosed it to her are mesmerized how she has survived this long. Most cases of trisomy 13 are not a result from random events during the crossing of the eggs and sperm in the parents. An error in cell division called nondisjunction results in an egg or sperm cell with an higher number of
Prader-Willi syndrome Ashleigh Hughes Prader-Willi syndrome is a rare genetic disorder, that affects development and growth. It is estimated that 1 in 15,000 people ae born with PWS. Girls and boys are both equally affected. There is no cure for the disorder, however professional heath care can improve the child’s quality of life. Prader-Willi syndrome is a life long genetic disorder, where seven genes on chromosome 15 are deleted.
o Scrotal sac full ruggae bilaterally o Testicles in inguino-scrotal canal or intrabdominal that descend with lower abdominal compression o Ano-genital raphe present - Normal female newborn o Normal vaginal vault, perineal location without narrowing o urethra anterior wall o prepuce and clitoris male o Genetics - In a series of 81 children with ambiguous genitalia, 53 (65.4%) patients were genetically Females {46XX), with congenital adrenal hyperplasia being the common cause in 51 (96.5%) patients , o Other risk
Super male syndrome Nick Robbertse 47, XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male’s cell. Although males with this XYY syndrome may be taller than the average man, Most males with 47, XYY syndrome have normal sexual development and are allegeable to father children. XYY syndrome has increased risk of learning disabilities and delayed development of speech and other language skills. Delayed development of motor skills such as sitting and walking and also weak muscle tone, hand tremors or other involuntary movements, and behavioural and emotional difficulties are also potential.
INTRODUCTION Ellis–van Creveld syndrome (EVCS) also known as chondro-ectodermal dysplasia or meso-ectodermal dysplasia was initially coined by Ellis of Edinburgh and Simon van Creveld of Amsterdam in 1940. (1) It is a hereditary disorder caused by alterations in an original gene on chromosome 4p16.(2) It determines autosomal recessive inheritance and there is parentral consanguinity in 30% of the cases.(3) The occurrence of this disease in general population is moderately low. This disease is predominant in the Amish population of Pennsylvania of USA.
Imagine having poor eyesight and hearing loss, this is exactly what usher `s syndrome is. Usher`s syndrome weakens its victim’s hearing and eyesight. Usher`s syndrome is genetic which means that is inherited by a child from its parents. The chromosome 3q22.1 of the gene pchd15 is mutated when usher`s syndrome occurs. The symptoms of usher`s syndrome consist of retinitis pigments (which weakens eyesight), hearing loss, blindness during the night, and loss of peripheral vision.
Amniocentesis has been widely used since it was first performed in 1956[1]. Originally reported as a method of determining fetal sex in utero, Fuchs and Riis then hypothesized that it could be possible to diagnose chromosomal abnormalities in utero via this technique. By 1963, it had been confirmed that the karyotype of fetal and amniotic cells are identical[2]. Steele and Brag then showed in 1966 that amniotic cells can be sampled and cultured in sufficient quantity to be karyotyped, showing that in utero chromosome analysis was possible[3]. Shortly thereafter, the first prenatal diagnosis of an abnormal karyotype was reported[4].
Therefore it comes down to the fact that a person does not agree with their chromosomal configuration. These people usually state that they feel like they are a woman trapped in a man’s body or vise versa. It’s all a matter of a complex series of emotions and it can be argued that scientifically it doesn’t exist because it all
Sperm Abnormalities, as the name suggests, are the irregular/uncommon conditions of the sperms in males, the