Swyer Syndrome

The patient whose chromosomes are organized on the Karyotype Worksheet #1, is a normal female as indicated by her XX sex chromosomes, with a total number of 46 chromosomes and her karyotype doesn’t exhibit any aneuploidy or structural errors.

Imagine being a kid, going to school and struggling a little more than everyone else. You're the tallest in your class, and different than your friends. You can’t pronounce words as well as they can, and they can’t really understand you. You have to have special classes to help with your learning disabilities. These things describe XYY Syndrome, also known as 47, XYY Syndrome; Jacob’s Syndrome; XYY Karyotype; and YY Syndrome. (NORD). It is a genetic disease in which males have an extra Y chromosome due to an error in cell division.

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting only males. It mostly affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome affect every person differently, and not everyone with it develops the same signs and symptoms. Klinefelter syndrome often isn't diagnosed until adulthood. Most men with Klinefelter syndrome produce little or no sperm. But assisted reproductive procedures

Usually women have two X chromosomes while men have one X chromosome and one Y chromosome. There are some cases where babies do not have any of these arrangements mentioned above (Through the Wormhole video). As people study these kind of cases, they have realized that there might be more than two sexes. For example, I learned that some women can be born with “Swyer syndrome”, which makes them anatomically and physiologically a female but they never achieve female sexual maturity (The Gene: An Intimate History). When their cells were examined, they discovered that they had XY chromosomes in their cells. Basically, they were chromosomally male but anatomically, physiologically, and psychologically female (The Gene: An Intimate History). Goodfellow discovered the SRY gene. This gene was the determinant of maleness but it was flicked off on women with Swyer

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.

About 10% of all miscarriages have this disease to blame. Turner syndrome happens when a female’s X chromosome has both X’s in one cell, but not others (called Mosaic Turner Syndrome), or entirely missing (called Monosomy). It can also happen when instead of two X chromosomes, there’s one X and a small part of a Y chromosome. The girl will still develop as a female, however. All of these forms of Turner Syndrome can result in physical problems like heart or kidney defects, a shorter than normal stature, a failure to start puberty, and infertility, and mental problems like learning disabilities and social adjustment problems, to name just a few symptoms.

Cytogenetic studies showed that three of the affected fetuses were female, and one was male. In the first affected female, these findings were cleft lip with cleft palate; gastroschisis ; diaphragmatic defect with malposition of the right lung; agenesis of the left kidney, left supra-adrenal gland; and spleen; a malformed uterus, with only a right rudimentary ovary and salpinx; and only one umbilical artery. In the second affected fetus, a female, findings were a protrusion and cataract of the left eye, microphthalmia of the right eye, cleft lip with a cleft plate, malformed nose with a single naris and choanal atresia, hypoplasia of the pelvis, and atresia of the urethra. In the third affected fetus, a male, findings were agenesis of the left kidney and left supra-adrenal gland, hypoplasia of the pelvis, persistence of cloaca, and no external genitalia. Informed consent was obtained from all family members involved in a study; ethical approval was given by local ethics committee. Following the initial genome screen, individual markers were genotyped in fetus IV: 4, from whom formalin-fixed paraffin sections were available. Under the assumption of an autosomal of inheritance, selected informative markers were analyzed for fetus IV: 4 when identical alleles were shared homozygous by fetus IV: 7 and IV: 8, when one copy

The patient will first need to be treated with recombinant human growth hormone (Ross, Cao, Feuillan, Kowal, Chipman, & Cutler, 2011); the patient may not be average height, but treatment does significantly increase the final adult height of the patient. Treatment for Ovarian failure is much more difficult and offers unique challenges because the timing and necessary dosage may fluctuate depending on the patient (Ros, Balasch, Mullol, & Castelo-Branco, 2013). Lifelong medical care is extremely important, and patients do not need to cease treatment as they grow beyond adolescence so medical professionals can continue to prevent or treat health problems that could be fatal. Lack of quality medical treatment as an adult can reverse positive goals attained during pediatric care and could possibly result in the death of the patient (Davies,

Klinefelter Syndrome is the presence of an extra X chromosome in the male. Klinefelter disease is the most common chromosomal malfunction. Klinefelter Syndrome Is a fault in cell division when the reproductive cell of a parent is being designed. (Kids Health 2015) Klinefelter Syndrome occurs in 1 out of 1000 males. (Dennis O’Neal, 2013)

Two syndromes that embody the intersex condition in which the physical appearance of an individual's genitals does not reflect the individuals gender include CAH and AIS. Congenital adrenal hyperplasia happens when an individual's genetic make up is that of a female. However, during prenatal development, which is the first most important process and healthy and normal individuals; the syndrome causes the adrenal gland to go haywire and overproduce androgens due to a genetic condition. Thus, the prenatal sexual differentiation is one that does not occur in the manner that it normally would for a female. The overproduction of these androgens is directly connected to the fact that the individual who is genetically born a female begins to grow

The patient’s female cousin is “okay”, but she is unable to have children. One possibility is Robertsonian translocation. Translocation is a disorder in which 2 chromosomes join leaving 45 chromosomes in each cell. There are no physical signs of this disorder, however inheritance of this disorder can lead to several anomalies including Down syndrome, which can result in miscarriage.

Turner syndrome is a form of chromosomal condition that describes women and girls who have abnormal features, which are caused by either a partial or complete absence of the second sex, “X,” chromosome. Dr. Henry Turner was one of the first persons to describe these features in the 1938, and the syndrome is named after him. He observed and studied seven girls with similar “odd” features. “Turner Syndrome occurs in about one out of every two thousand females who are born, as well as in up to as many as ten-percent of all miscarriages.” This syndrome is considered to be a rare syndrome.

In Diagram 2, the chromosomes were distributed to gametes incorrectly. This mixed chromosome pattern is known as mosaicism. There are about thirty percent of females with Turner syndrome that are missing the X chromosome. The missing gene on the X chromosome is known as the SHOX gene. This gene is responsible for the long bone growth.

Well let me tell you. Some people affected by Klinefelter Syndrome have sparse body hair, enlarged breasts, and wide hips. In almost all men the testicles remain small. In some men the penis does not reach adult size. Their voices may not be as deep. They usually cannot father children. But they can have a normal sex life. Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).

XYY Syndrome is a condition where a male has an extra Y chromosome in his genes. This can be known as “Jacob’s Syndrome, XYY Karyotype or YY Syndrome”. Having this condition does not mean that an individual life would have a massive impact although there are some factors that may cause issue such as being taller than an average height person of the specific age, learning difficulties, speech problems, minor physical differences such as weaker muscles and bones. The condition can cause delayed puberty, which is why when a male is older he could fact fertility issues, and complications related to low testosterone levels. Saying this, XYY Syndrome does generally distinctive physical features or complications and have a normal sexual