Charlevoix stories which topped the news charts in 08 Jan 1, 2009
While Logan Smith suffers from a severe cognitive impairing condition known as Klinefelter Syndrome, he dedicated himself to earning his varsity letter in cross country at Charlevoix High School. The Rayder trained, watched his diet and focused to trim minutes off his times and even beat the times of several opposing team runners. (Gaylord Herald Times, MI)
Male Birth Defect Associated With Certain Genetic Mutations, Study Finds Nov 22, 2008
The most common genetic findings in those with cryptorchidism were eight cases of Klinefelter syndrome (a chromosome condition that is the most common genetic cause of male infertility) and five cases of mutations in the INSL3 receptor gene (a regulator of testicular descent) ... "We found that chromosomal aberrations represent the most frequent genetic alteration in participants with isolated cryptorchidism, particularly in those with persistent cryptorchidism (1.6 percent in the unilateral... (Science Daily)
UC Davis researchers define characteristics, treatment options for XXYY syndrome Aug 24, 2008
It was once thought to be a variant of Klinefelter syndrome, in which males have one extra X chromosome ... "Until now, physicians have had to search the medical literature to patch together a treatment plan mostly based on information on Klinefelter syndrome," said Nicole Tartaglia, an assistant professor of pediatrics at the University of Colorado Denver School of Medicine who was a fellow at the M.I.N.D. Institute when the study was conducted ... "Life skills are more of a struggle for these... (EurekAlert!)
Genetic Abnormalities In Sperm Linked To Dietary Folate Intake, Study Shows Mar 21, 2008
For example, children born with an extra chromosome 21 have Down syndrome, characterized by mild to severe mental retardation, while boys with an extra X chromosome have Klinefelter syndrome, which could affect language and learning development. Boys with an extra Y chromosome, or XYY syndrome, may also have some learning and behavioral difficulties. (Science Daily)
New Solutions To Reproductive Problems Related To Chromosomal Variations Dec 26, 2007
As recently as 10 years ago, all men born with an extra X chromosome a condition whose classic symptoms are known as Klinefelter syndrome were thought to be infertile ... "Our current research in the laboratory focuses on understanding the mechanism by which the presence of an additional X chromosome affects sperm production and testosterone synthesis in males with Klinefelter syndrome. These critical and unique studies will allow us to provide improved treatment and management recommendations... (Science Daily)
Child porn defendant gets 5 years in prison Feb 14, 2007
Cuozzo, who must register as a sex offender, said he has Klinefelter Syndrome, a genetic defect that leads to feminine traits such as sparse or absent facial hair and a high-pitched voice. "David Cuozzo plainly fits the profile of a vulnerable inmate," his attorneys wrote in court papers. (Newsday -- State)
