Most men inherit a single X chromosome from their mother, and a single Y chromosome from their father. Men with klinefelter syndrome inherit an extra X chromosomes from either father or mother; their karyotype is 47 XXY. Klinefelter is quite common, occuring in 1/500 to 1/1,000 male births. The effects of klinefelter are quite variable, and many men with klinefelter are never diagnosed.

The presence of an extra X chromosome in males is most often the result of a mistake that occurs in the process of cell division that produces sperm or eggs.

For couples with KS, the main problem is the failure of sperm formation. If there is any evidence of any sperm at all, there are techniques of sperm implantation into the ovum (intra-cytpolasmic sperm insemination, ICSI), which is carried out as part of IVF. If there are no sperm viable at all, then the couple should consider artificial insemination by a donor (AID), or adoption. The availability of AID varies according to the part of the country, as does the willingness of the NHS to fund it.

What distinguishes Asperger's Syndrome from autism is the severity of the symptoms and the absence of language delays. Children with Asperger's may be only mildly affected and frequently have good language and cognitive skills. To the untrained observer, a child with Asperger's may seem just like a normal child behaving differently. They may be socially awkward, not understanding of conventional social rules, or show a lack of empathy.

Until recently, neurologists classified the types of seizures, such as focal or generalized convulsive. The past few decades, research has leaned toward determining if the patient has an epileptic syndrome, or a specific type occurring under certain conditions. These conditions could include a particular clinical setting at a certain age with other accompanying findings like radiological tests and EEGs. Absence--or petit mal--seizures can illustrate the value of a syndrome approach.

Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems observed by the patient) recognizable by a doctor's exam. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered "diagnostic." Conversely, because someone may display some of the signs and symptoms of a syndrome, does not necessarily mean they have it.

HELLP Syndrome occurs in 4 percent to 12 percent of the women who have preeclampsia. It is one of the most severe forms of preeclampsia. HELLP stands for: hemolysis, elevated liver enzymes, and lowered platelets. HELLP Syndrome most often affects the liver, causing stomach and right shoulder pain. HELLP Syndrome is most dangerous because it can occur before you exhibit the classic symptoms of preeclampsia. It is often mistaken for the flu or gallbladder problems.

Only 3 to 5% of cases are inherited; the rest arise as an accident of chromosome arrangement during meiosis. For details, see my essay on the origin of trisomy 21 or Dr. Paul Benke's essay on the types of DS, and the risk and recurrence risk of DS. No. Down syndrome occurs at conception, so nothing in the pregnancy can cause Down syndrome to occur. As for prior to conception, the research all shows that drug or alcohol use does not increase the risk of having a child with DS.

Tourette Syndrome TS) is a neurological disorder characterized by tics -- involuntary, rapid, sudden movements or vocalizations that occur repeatedly in the same way.

Down's Syndrome is a genetic condition caused by extra genetic material (genes) from the 21st chromosome. The extra genes cause certain characteristics that we know as Down's syndrome. Individuals with Down's Syndrome also have all the other genes given to them by their parents. As a result, they have a combination of features typical of Down's Syndrome on top of the individual features from their parents.

The long QT syndrome (LQTS) is causing an abnormality of the heart's electrical system. The mechanical function of the heart is entirely normal. The electrical problem is due to defects in heart muscle cell structures called ion channels. These electrical defects predispose affected persons to a very fast heart rhythm (arrhythmia) called "Torsade de Pointes" (TdP) which leads to sudden loss of consciousness (syncope) and may cause sudden cardiac death.

The diagnosis is commonly suspected or made from the electrocardiogram (ECG). All children and young adults should have an ECG as part of their evaluation for an unexplained loss of consciousness episode. On the other hand, there is the possibility to check blood samples for known gene mutations that cause LQTS.

Carpal tunnel syndrome (CTS) usually begins with occasional hand and wrist numbness. Most people ignore CTS when it is in its early stages. Over time, the numbness persists and turns into pain and hand weakness. People at risk for CTS include computer operators and anyone who performs a repetitive hand motion frequently. Early detection and treatment is important. Since different people have different pain thresholds, it's best to be screened by a trained professional.

Poland syndrome is a unique pattern of one-sided malformations that are present at birth. Poland syndrome is characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the hand on the same side (ipsilateral hand).