What is Klinefelter syndrome?

Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. Klinefelter syndrome is named after Dr. Henry Klinefelter, who first described a group of symptoms found in some men with the extra X chromosome. Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. Because not every male with an XXY pattern has all the symptoms of Klinefelter syndrome, it is common to use the term XXY male to describe these men, or XXY condition to describe the symptoms. Scientists believe the XXY condition is one of the most common chromosome abnormalities in humans. About one of every 500 males has an extra X chromosome, but many don't have any symptoms.

What are the symptoms of the XXY condition?

Not all males with the condition have the same symptoms or to the same degree. Symptoms depend on how many XXY cells a man has, how muchtestosterone is in his body, and his age when the condition is diagnosed. The XXY condition can affect three main areas of development 1) physical, 2) language, and 3) social.

Physical development
As babies, many XXY males have weak muscles and reduced strength. They may sit up, crawl, and walk later than other infants. After about age four, XXY males tend to be taller and may have less muscle control and coordination than other boys their age. As XXY males enter puberty, they often don't make as much testosterone as other boys. This can lead to a taller, less muscular body, less facial and body hair, and broader hips than other boys. As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys. By adulthood, XXY males look similar to males without the condition, although they are often taller. They are also more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay. XXY males can have normal sex lives, but they usually make little or nosperm. Between 95 percent and 99 percent of XXY males are infertilebecause their bodies don't make a lot of sperm.

What is Turner syndrome?

Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence ofovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths). Turner syndrome is a chromosomal condition related to the X chromosome. Researchers have not yet determined which genes on the X chromosomeare responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

What are the symptoms for Turner syndrome?

Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl's ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty. Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal. In early childhood, girls who have Turner syndrome may have frequentmiddle ear infections. Recurrent infections can lead to hearing loss in some cases. Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. Some girls, however, have problems with math, memory skills and fine-finger movements. Additional symptoms of Turner syndrome include the following:

An especially wide neck (webbed neck) and a low or indistinct hairline. A broad chest and widely spaced nipples. Arms that turn out slightly at the elbow.

A heart murmur, sometimes associated with narrowing of the aorta(blood vessel exiting the heart). A tendency to develop high blood pressure (so this should be checked regularly). Minor eye problems that are corrected by glasses.

Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.

What is a genetic disease?

A genetic disease is any disease that is caused by an abnormality in an individual's genome. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure.

What are the different types of inheritance?

There are a number of different types of genetic inheritance, including the following four modes:

Single gene inheritance

Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in theDNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age). Some examples of monogenetic disorders include:

1.cystic fibrosis

Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of your secretory glands, including the glands that make mucus and sweat. "Inherited" means that the disease is passed through the genes from parents to children. People who have cystic fibrosis inherit two faulty cystic fibrosis genesone from each parent. The parents likely don't have the disease themselves. Cystic fibrosis mostly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.
Mucus is a substance made by the lining of some body tissues. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. However, if you have cystic fibrosis, your mucus becomes thick and sticky.

The mucus builds up in your lungs and blocks your airwaysthe tubes that carry air in and out of your lungs. The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs. The thick, sticky mucus also can block tubes, or ducts, in your pancreas. As a result, the digestive enzymes that your pancreas makes can't reach your small intestine. These enzymes help break down the food that you eat. Without them, your intestines can't fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients leave your body unused. It also can cause bulky stools, intestinal gas, a swollen belly from severeconstipation, and pain or discomfort. Cystic fibrosis also causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. This can upset the balance of minerals in your blood and cause a number of health problems. Examples include dehydration (a condition in which your body doesn't have enough fluids), increased heart rate, tiredness, weakness, decreased blood pressure, heat stroke, and, rarely, death. If you or your child has cystic fibrosis, you're also at increased risk fordiabetes or a bone-thinning condition called osteoporosis. Cystic fibrosis also causes infertility in men, and it can make it harder for women to get pregnant.

2.sickle cell anemia

Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (an oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (sickled) red blood cells. The sickled red blood cells are fragile and prone to rupture. When the number of red blood cells decreases from rupture (hemolysis), anemia is the result. This condition is referred to as sickle cell anemia. The irregular sickled cells can also block blood vessels causing tissue and organ damage and pain.

3.Marfan syndrome
Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development.

In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.

What are the symptoms of Marfan syndrome?

Marfan syndrome affects different people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the symptoms progress as the person ages. The body systems most often affected by Marfan syndrome are:

Skeleton . Eyes Heart and blood vessels (cardiovascular system) Nervous system Skin Lungs

4.hereditary hemochromatosis?
Hereditary hemochromatosis is an inherited (genetic) disorder in which there is excessive accumulation of iron in the body (iron overload). It is a common genetic disorder among Caucasians in the United States, affecting approximately one in 240 to 300 Caucasians. Individuals affected with hereditary hemochromatosis may have no symptoms or signs (and have normal longevity), or they can have severe symptoms and signs of iron overload that include sexual dysfunction, heart failure, joint pains, liver cirrhosis , diabetes mellitus, fatigue, and darkening of skin. The normal iron content of the body is three to four grams. The total amount of iron in the body is carefully controlled. The body loses one mg of iron daily from sweat and cells that are shed from the skin and the inner lining of the intestines. Women also lose one mg of iron daily on average from. In normal adults the intestines absorb one mg of iron daily from food to replace the lost iron, and therefore, there is no excess accumulation of iron in the body. When iron losses are greater, more iron is absorbed from food.

How is hereditary hemachromatosis inherited?

Hereditary hemochromatosis is an autosomal recessive disorder, which means an individual has the possibility of developing iron overload only if he/she inherits abnormal genes from both parents. (An autosomal recessive disorder is different fromautosomal dominant disorder in which individuals can develop disease by inheriting an abnormal chromosome from only one parent.) The human body is composed of trillions of cells. Inside the inner core (nucleus) of each cell are chromosomes. Every human cell has two sets of 23 chromosomes (total of 46 chromosomes). Each set is inherited from one parent. Chromosomes contain DNA that carries genes that govern all bodily functions including cell metabolism, appearance, height, intelligence, hair and eye color, and other physical traits. Defects in DNA (also called mutations) are passed from one generation to the next, and sometimes can cause diseases. There are primarily two mutations associated with hereditary hemochromatosis; C282Y and H63D. The numbers 282 and 63 designate the location of the defects on the HFE gene located on chromosome number 6. An individual who inherits two C282Y mutations (one from each parent) are called C282Y homozygotes, and he/she has a significant chance of developing hemochromatosis. In fact, C282Y homozygotes account for 95% of cases of hereditary hemochromatosis. Patients who inherit one C282Y mutation from one parent and another H63D mutation from another parent are called compound heterozygotes. They account for another three percent of the cases of hereditary hemochromatosis.

GENETIC FORMATION OF TWINS

A twin is one of two offspring produced in the same pregnancy.[1] Twins can either bemonozygotic (in common parlance, "identical"), meaning that they develop from one zygote that splits and forms two embryos, or dizygotic ("fraternal") because they develop from two separate eggs that are fertilized by two separate sperm. In contrast, a fetus which develops alone in the womb is called a singleton, and the general term for one offspring of a multiple birth is multiple. It is theoretically possible for two singletons to be identical if all 23 chromosomes in both gametes from the mother

and father were to be exact matches from one birth to the next. While this is statistically improbable (less than one in one billion-billion-billion chance) under natural conditions, a controlled pairing may someday be possible.

Top 10 Unique and Unusual Types of Twins

1. Conjoined Twins Conjoined twins are monozygotic multiples that do not fully separate from each other due to the incomplete division of the fertilized ovum. The individuals will be connected at certain points of the body, and may share tissue, organs or limbs. 2. Twins Conceived Separately: Superfetation Normally when an egg is fertilized, a woman's cycle is interrupted and ovulation ceases. Rarely, however, an egg can be released while a woman is already pregnant, resulting in twins that are conceived at different times. 3. Twins with Different Fathers: Heteropaternal Superfecundation Fraternal (dizygotic) twins are the result of hyperovulation, the release of multiple eggs in a single cycle. Superfecundation describes a situation where the eggs are fertilized by sperm from separate incidences of sexual intercourse. In a case where a woman has sex with different partners, the twins could have different fathers and the apporpriate term is heteropaternal superfecundation.

4. "Half Identical" Twins: Polar Body Twins There are two types of twins, right? Dizygotic (fraternal) twins result when two eggs are fertilied. Monozygotic (identical) twins come from a single fertilized egg that splits. But what if the egg splits and then each half meets a sperm? That's the proposed theory for polar body or "half-identical" twins, twins who are very much alike but aren't a 100% DNA match. Although it seems to be a reasonable theory, there is no definitive test to confirm polar body twinning. 5. Boy/Girl Identical (Monozygotic) Twins Identical (monozygotic) twins are always same gender because they form from a single zygote that contains either male (XY) or female (XX) sex chromosome. However, there have been a few reported cases of a genetic mutation in male twins where one twin loses an Y chromosome and develops as a female. The female twin would be afflicted with Turner's Syndrome, characterized by short stature and lack of ovarian development. Of course, another explanation for gender differences in identical twins is an identical twin who undergoes a sex change operation. 6. Mirror Image Twins Mirror image twins are monozygotic, twint that form from a single fertilized egg. When the split occurs late - more than a week after conception - the twins can develop reverse asymmetric features. This term is not really a type of twin, just an way to describe their physical features. For exmample, they may be right- and left-handed, have birthmarks on opposite sides of their body, or have hair whorls that swirl in opposite directions. In theory, if the twins faced each other, they would appear to be exact reflections of each other. About 25% of identical twins are mirror image twins. 7. Parasitic Twins A type of conjoined tiwns that develops asymmetrically, with a smaller, less formed twin dependent on the stronger, larger twin. Manar Maged gained notoriety after being featured on Oprah. A variation of parasitic twinning is fetus in fetu, where an abnormally formed mass of cells grows inside the body of its monozygotic twin. It survives during pregnancy, and even occasionally after birth, by tapping directly into the blood supply of the host twin. This report describes an Indian man whose fetus in fetu was discovered as an adult. 8. Semi-Identical Twins A type of twinning identified in a pair of three-year-old twins in 2007. Described as identical on the mother's side but sharing only half their father's genes, the rare twins developed when two sperm fertilized a single egg, which then split. One twin is a hermaphrodite being raised as a female, with both testicular and ovarian structures, while the other is anatomically male. 9. Twins with Different Birthdays The most common explanation is a labor and delivery that begins before midnight on one day and ends after the clock changes to the next day. If that day happens at the end of the month, or even on New Year's Eve/Day, the two babies can have birthdays in different months and even different years! Also, sometimes a pregnancy is prolonged to provide each baby with an optimal chance for survival. If preterm labor forces the delivery of one baby, doctors can successfully

control the abor and delay delivery to give the other baby more time in the womb. Twins and higher multiples have been born days and even weeks apart.

10. Twins of Different Races Heteropaternal superfecundation can explain cases of fraternal (dizygotic) twins with differing racial characteristics. In one case, the differentiation was due to a lab mix-upduring an in-vitro procedure. However, in 2005 in the United Kingdom, two bi-racial parents conceived fraternal (dizygotic) twin girl twins, Kian and Remee Hodgson. Described as a "one in a million" occurrence, experts explain that the girls inherited different genetic characteristics from their mixed race parents. One is fair-haired and light skinned, while the other has dark hair, eyes and skin.

TWO TYPE OF TWINS 1.Fraternal twin: A twin who have shared a common uterine environment
with its sibling. Fraternal twins are due to the fertilization of two different ova by different sperm.

2.Identical Twin Identical twins are identical, right? After all, they derive from just one fertilized egg, which contains one set of genetic instructions, or genome, formed from combining the chromosomes of mother and father.

But experience shows that identical twinsare rarely completely the same. Until recently, any differences between twins had largely been attributed to environmental influences (otherwise known as "nurture"), but a recent study contradicts that belief. Geneticist Carl Bruder of the University of Alabama at Birmingham, and his colleagues closely compared the genomes of 19 sets of adult identical twins. In some cases, one twin's DNA differed from the other's at various points on their genomes. At these sites of genetic divergence, one bore a different number of copies of the same gene, a genetic state called copy number variants. Normally people carry two copies of every gene, one inherited from each parent. "There are, however, regions in the genome that deviate from that two-copy rule, and that's where you have copy number variants," Bruder explains. These regions can carry anywhere from zero to over 14 copies of a gene. Scientists have long used twins to study the roles of nature and nurture in humangenetics and how each affects disease, behavior, and conditions, such as obesity. But Bruder's findings suggest a new way to study the genetic and environmental roots of disease. For example, one twin in Bruder's study was missing some genes on particular chromosomes that indicated a risk of leukemia, which he indeed suffered. The other twin did not. A general stereotype about identical twins is that they are clones. They act alike, look alike, and are expected to be "identical." However, the term identical twins actually refers to a type of twinning, and describes how they form, not what they look like. The correct term for identical twinning is monozygotic. Monozygotic twins form from a single (mono) fertilized egg (zygote). The zygote splits into two parts after conception, resulting in the development of two individual embryos. Because the two embryos are the result of a single egg/sperm combination, they have the same genetic origins. They have the same DNA. Dizygotic twins (often referred to as fraternal), are the result of two eggs fertilized by two separate sperm. Although most women only release a single egg in an ovulation cycle, sometimes multiples eggs are released. Dizygotic twins share about 50% of their genetic traits, the same as any other siblings born at different times.

"Are they identical or fraternal?" This is probably the most common question asked of parents of multiples. Many people do not understand what they are really asking, assuming that it is just a matter of twins having similar physical appearance. But twin type is actually determined long before the twins are born. The terms identical and fraternal are common words that refer to zygosity -- the characteristics of the cell union that happened at conception.

Identical -- monozygotic (one zygote) -- twins form when a single fertilized egg splits into two genetically identical parts. The twins share the same DNA set, thus they may share many similar attributes. However, since physical appearance is influenced by environmental factors and not just genetics, identical twins can actually look very different. Identical twins are always samesex sets. Fraternal -- or dizygotic (two zygotes) -- twins develop when two separate eggs are fertilized and implant in the uterus. The genetic connection is no more or less the same as siblings born at separate times. They may look alike, or they may not. Scientists have theorized a third, hybrid type called polar body twinning, that occurs when an unfertilized egg splits into two parts and each part is fertilized by a different sperm. The twins would then share one-half of their gene set (from their mother). Because it is the father's DNA that determines the sex, the twins can be either same-sex or male/female.