Navigation Links
Patau syndrome


Patau syndrome, also known as Trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13 .

Patau syndrome is associated with severe mental retardation, small eyes that may exhibit a split in the iris (coloboma), a cleft lip and/or palate, weak muscle tone (hypotonia), an increased risk of heart defects, skeletal abnormalities, and other medical problems. Affected individuals rarely live past infancy because of the life threatening medical problems associated with this condition. Patau syndrome affects approximately 1 in 10,000 live births. The risk of having a child with Patau syndrome increases as a woman gets older.

People with Patau syndrome have additional DNA from chromosome 13 in some or all of their cells. The extra material disrupts the normal course of development, causing the characteristic features of Patau syndrome.

Most cases of Patau syndrome result from trisomy 13, which means each cell in the body has three copies of chromosome 13 instead of the usual two copies. A small percentage of cases occur when only some of the body's cells have an extra copy of chromosome 13, resulting in a mixed population of cells with a differing number of chromosomes, such cases are called Mosaic Patau syndrome.

Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome (translocated) before or at conception. Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ from the typical Patau syndrome.

Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each of the body's cells.

Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. As a result, some of the body's cells have the usual two copies of chromosome 13, and other cells have three copies of the chromosome.

Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13. Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

External links

This article incorporates public domain text from The U.S. National Library of Medicine


'"/>


(Date:8/28/2014)... Invasives is now available from the Lady Bird Johnson ... for identifying harmful non-native plant, insect and other invasive ... States cause about $137 billion in economic and other ... kill native plants and more. , "By having streamlined ... invasive species occur, we,re more likely to catch these ...
(Date:8/28/2014)... news release is available in German . ... water fish, owes its name to a striking pattern of ... types, black cells, reflective silvery cells, and yellow cells emerge ... and arrange as a multilayered mosaic to compose the characteristic ... three cell types have to interact to form proper stripes, ...
(Date:8/28/2014)... the University of Minnesota have developed an animal research ... for muscle regeneration research as well as studies of ... research is published in the current edition of the ... treatment for FSHD, which is thought by many to ... is an unusual genetic disorder because, unlike most genetic ...
Breaking Biology News(10 mins):Mobile app makes ID of harmful plants, insects in Texas a snap 2How the zebrafish gets its stripes 2How the zebrafish gets its stripes 3UMN researchers find animal model for understudied type of muscular dystrophy 2
... no picture is available; however, you can find ... the group's research. , In a step toward ... computers, engineers at Princeton have programmed bacteria to communicate ... feat, accomplished in a biology lab within the Department ...
... Capital Health surgeon, well known for his pioneering work ... taken another important step in the fight against diabetes. ... Koichi Tanaka and Dr. James Shapiro, along with a ... woman's pancreas. Dr. Shinichi Masumoto then isolated the living ...
... University of Maryland have identified a cricket living in ... mating behavior appears to be the driving force behind ... wrote in the Jan. 27 issue of Nature magazine. ... in the pulse rates of male courtship songs, which ...
Cached Biology News:Programmable cells: Engineer turns bacteria into living computers 2Programmable cells: Engineer turns bacteria into living computers 3World-first Living Donor Islet Cell Transplant A Success; Procedure Offers Promise For Diabetics 2Cricket's finicky mating behavior boosts biodiversity 2Cricket's finicky mating behavior boosts biodiversity 3
Other biology definitionOther Tags