Klinefelter's Syndrome: A Case Study

p2 + 2pq + q2 = 1 ; where ‘p2’ represents the homozygous dominant genotype, ‘2pq’ represents the heterozygous genotype, and ‘q2’ represents the homozygous recessive genotype

4. Clear wing, Black eye, and Hairless (c, b, and h) are linked, recessive traits carried on

With this in mind, many people who suffer with PKU use many low protein, dairy free, fruits and vegetables products to maintain their health and even stated that “PKU isn't just a diet thing. It's a brain thing.” Since all 50 states and territories of the United States require the screening of PKU, it is normally tested right after the baby is born. By taking a few drops of blood from the heel of the baby, the sample will be sent to a laboratory to test the amount of phenylalanine in the sample. Since PKU is also known as a genetic disorder, many health care providers also suggested the idea of genetic testing so it can into detail about the mutations in the genes that will cause

Klinefelter's Syndrome is a genetic disorder that only affects men. Those affected are born with an extra X chromosome (Belts & Frey, 2006). In 1942, Dr. Harry Klinefelter released a study concerning nine men who had little to no facial hair, enlarged breasts, small testicles, and were unable to produce sperm. The name of this syndrome originated from Dr. Klinefelter's name (Kenny & Henderson, 2015). This disease is often abbreviated as KS or referred to as 47 XXY. It is referred to as 47 XXY because of the extra chromosome in patients (Schoenstadt, 2016).

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)

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.

The most common karyotype is the paternal 47,XXY which account for over three fourths of those with Klinefelter’s syndrome, but there are a small number of cases (10-20%) that have a “mosaic karyotype, 46,XY, 48,XXY or 48,XXYY.” (Maiburg, 2012). It is believed that Klinefelter’s syndrome develops after sister chromatids fail to separate correctly or separate early during meiosis I, and this is thought to be the main cause of infertility (Maiburg, 2012, pg 254). Males can inherit this from either their mother or their father, although the nondisjunction happens at different stages of meiosis, if inherited from the mother it could have happened during meiosis I or II, whereas in the father it has to happen during meiosis I (Maiburg, 2012, p 254). Just like with other genetic disorder’s age of the parents, particularly the mother, also play a sizeable role, in the development of Klinefelter’s

First I found all of the homozygous recessive family members. Anyone who doesn’t have Darwin’s tubercle is automatically homozygous recessive, so June, Gretchen, Starr, GG, Amy, Katelyn, Allison, Stuart, Heather, Erik, and Nick are all homozygous recessive. I managed to find my genotype because I have the dominant trait. This means that I am either homozygous dominant or heterozygous. I discovered I was heterozygous because my mom is homozygous recessive, so she could only give me the recessive trait. This is the same for Susan, Jay, Amanda, Brandon, and Hunter. Some of my other family members are heterozygous because their children are homozygous. This goes for Dick and Bob. I could not determine the genotype for Bruce and Leonora. This is because there was not enough information to 100% determine if they were heterozygous or homozygous dominant. They both had kids who had Darwin’s tubercle, and there is no information about their parents, so it could go either

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.

Klinefelter Syndrome is a sex chromosome disorder. The disorder is described as having at least two X chromosomes and one Y chromosome (47,XXY) (Huether 47). Because there is at least one Y chromosome in the genetic make up, this disorder only affects males. Males with Klinefelter Syndrome often have delayed physical, cognitive, speech and language development along with small testicles (Defendi). These children also tend to be quiet, shy, have unassertive personalities and diminished self-esteem (Mazzocco 47).

Patients with moderate PKU typically do not require very strict dietary restriction due to some presence of PAH enzyme; iii). Variant PKU (serum phenylalanine is about 12-16 mg/dl) which has phenotypic variability due to allelic variation at the PAH locus. The individuals with variant PKU need to be under diet with low phenylalanine, but less strict than the classic one. (Fazeli et al

Phenylketonuria is a lifelong disorder it is an inborn error and inherited metabolic disorder caused by a mutation in PAH gene. Accumulation of PHE in the blood effect on myelination and neurotransmitters production. Normal physical growth, preventing neurological deterioration and maintenance of health are the goals for lifelong treatment. To achieving optimal cognitive outcome blood, PHE tries to stay between (120-360) µmol\L. Patients with PKU need to stay on treatment, and that will vary from patient to another. Some patients need very restricted diet and some have partial enzyme activity and can tolerate more PHE in their diet. Tolerate PHE is changing during periods of rapid growth, illness, or changing in lifestyle.

Hydroxylase (PAH) gene mutated leading the non function of this enzyme in this disease. In

When a person has PKU they aren’t able to be cured but can prevent intellectual disabilities by special treatments. In

This table helps show all the possible genotypes from one set of parents. The table shows that the genotypes purple and starchy are dominant, and the genotypes yellow and sweet are recessive.(stallsmith)