ipl-logo

Klinefelter's Syndrome Research Paper

1211 Words5 Pages

Molecular Diagnostics of Klinefelter Syndrome

Submitted to:
Tarana Sharmin
Lecturer
Department of Genetic Engineering &
Biotechnology

Authored by: Hasan Al Reza
Roll: 10
Session: 2011-2012

Department of Genetic Engineering &
Biotechnology
University of Dhaka

Date: 19th April, 2015
Klinefelter Syndrome
Klinefelter’s Syndrome (KS) also known as 47, XXY is a sex chromosomal abnormality. It is a form of aneuploidy whereby the male patient has an extra X chromosome. The primary hallmark of the disease is male sexual sterility. The symptoms are sometimes subtle and only discovered late into adolescence. Some symptoms become prominent after puberty such as hypogonadism, development of breasts, less body hair, weaker muscles, poor muscle co-ordination, greater height, and loss of sexual drive. The intelligence of the patient is however not affected.
KS is not an inheritable disease. It is caused by an error in the process of meiotic cell division called non-disjunction. As a result the father’s sperm …show more content…

They mostly involve sophisticated machinery and staining techniques that have high-throughput results.
A. QF-PCR: Quantitate Fluorescent Polymerase Chain Reaction involves detection of chromosome specific DNA sequences known as genetic markers or short tandem repeats (STRs). It involves the use of primers labeled with fluorescent tags for PCR amplification of individual markers and the copy number of each marker is indicative of the copy number of the chromosome. The resulting PCR products may be analyzed and quantified using an automated genetic analyzer.
The genetic markers may vary in length across individual patients and chromosomes, depending on the no. of markers. The relative copy no. of each allele is determined by calculating the ration of the peak heights or area under the peaks detected for each

Show More
Related
852 Words | 4 Pages

Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

Read More
870 Words | 4 Pages

Symptoms Sanfilippo syndrome The symptoms generally appear between the ages of two and six.  Delayed development followed by deteriorating mental status, Sleep difficulties and Stiff joints that may not extend fully. 

Read More
733 Words | 3 Pages

Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

Read More
2390 Words | 10 Pages

23 inherited from the father called paternal and 23 from the mother called maternal. On the 46 chromosomes there are alleles that code for certain traits. If some allelic traits are not expressed (imprinted) can cause genetic disorders like Prader-Willi or Angelman syndrome (2013, Klug). Prader-Willi Syndrome and Angelman Syndrome Prader-Will and Angelman are two

Read More
728 Words | 3 Pages

a. The majority of the people diagnosed with Down Syndrome have it because of a faulty cell division called nondisjunction i. Nondisjunction happens with one of the pairs of the chromosomes fail to separate, resulting in the three 21 chromosomes ii. Total number of chromosomes equals 47 b. According to …. 3-4% of Children with Down Syndrome get it through gene translocation i. Gene translocation happens during cell division. This happens when part of the chromosome 21 breaks off and attaches to another

Read More
451 Words | 2 Pages

It can be seen through ultrasound screenings Turner syndrome fetuses often have fluid in the back of the neck, heart problems, and irregular kidneys. At infancy, common symptoms include puffy legs and hands, webbed neck, low ears and hairline. The most prevalent symptom is a short stature

Read More
1132 Words | 5 Pages

Dear, Jason How are you? I am health care provider, I was very sorry to hear about your son is sick, and you don’t know what wrong with him. Your son is three years older, he is very difficult walking, and cannot run and jump, climbing stairs are very difficult. Based on you give me information; I think your son get DMD, which is Duchenne Muscular Dystrophy. It is a rare disease.

Read More
229 Words | 1 Pages

Klienfeltor syndrome is a chromosome condition that affects male development. 47, XXY when someone has two X and one Y chromosome. Normally Males have an X and a Y chromosome, and females normally have two X chromosomes. People with Klinefeltor syndrome normally have two extra sex chromosomes in each cell. Klienfeltor syndrome affects one in 500 to 1,000 newborn males.

Read More
426 Words | 2 Pages

Cowden syndrome is a disease that increases the risk of getting multiple different types of cancers. It is passed down through heredity and can be life threatening. Cowden syndrome can be treated by decreasing symptoms and living a healthy lifestyle. People with this disorder should be tested more often and possibly take medication to reduce symptoms. It is a negative mutation because it decreases the chance of an organism’s survival.

Read More
201 Words | 1 Pages

While male and female infertility is relatively common in approximately 15% of the population, many molecular and genetic factors that cause infertility are not known. Even so, genetic factors that are associated with causing infertility are being identified, one of them being chromosomal disorders such as chromosomal aneuploidy. Chromosomal aneuploidy is a mutation in which the chromosome number is abnormal as a result of chromosomes failing to separate normally, or nondisjunction and is the leading cause of pregnancy loss and disabilities that impair development. Little is currently known as to what genes or how aneuploidy can cause male infertility, but because the number of chromosomes is different, some genes may be lost or you could have

Read More
1077 Words | 5 Pages

Pre-implantation genetic diagnosis (PGD) internal Pre-implantation genetic diagnosis or PGD is a procedure which is used before implantation to help identify genetic defects in embryos which are created through in vitro fertilisation or IVF, in order to prevent certain diseases or disorders being passed on to the child. In vitro fertilisation is process in which the egg is fertilised by the sperm outside the body and in a glass dish. A socio-scientific issue is a controversial social issue which relates to science. It usually has multiple solutions and are open-ended problems.

Read More
839 Words | 4 Pages

Kamasutra Male Enhancement Low libido and low sex drive is the common problem in men who are over the age of 30. This is because male hormones gradually starts to decrease and lead to various sexual problems. All men as they age experience a reduction in testosterone levels. Some of the problems include erectile dysfunction, premature ejaculation, low libido, low sex drive, depression, weight gain and poor performance in bed. All these problems have an adverse affect on the intimate relationships.

Read More
1224 Words | 5 Pages

Sperm Abnormalities, as the name suggests, are the irregular/uncommon conditions of the sperms in males, the

Read More
1251 Words | 6 Pages

Finally, the amplified DNA regions are compare using a gel. DNA Profiling

Read More
974 Words | 4 Pages

et al, 1997). Male infertility may be due to acquired or congenital conditions. About 15-30% of male are infertile due to genetical reasons (Ferlin A et al 2007). The prevalence rate of infertility is found in both developed and developing countries. To assess the infertility in male, medical history and physical examination including semen analysis is performed, After semen analysis, an infertile male may present with following conditions: (a) oligozoospermia (decreased number of spermatozoa), (b) teratozoospermia (many abnormal sperms), (c)

Read More

More about Klinefelter's Syndrome Research Paper

Related Topics

Open Document