Chromosomal disorder in which there are three copies of chromosome 13
Medical condition
Patau syndrome
Other names
Trisomy 13, trisomy D, T13[1]
Infant with Patau syndrome showing cleft lip, reduction of nose, and hypotelorism (c. 1912)
Pronunciation
/ˈpætaʊ/
Specialty
Medical genetics
Usual onset
Present at birth
Causes
Third copy of chromosome 13
Treatment
Supportive care
Prognosis
Poor
Named after
Klaus Patau
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.
This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13[1]), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome—mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis).
Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.[2] Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.[3]
^ ab"Trisomy 13: description in brief". GOV.UK. December 2020.
^"Prevalence and Incidence of Patau syndrome". Diseases Center-Patau Syndrome. Adviware Pty Ltd. 2008-02-04. Retrieved 2008-02-17. mean maternal age for this abnormality is about 31 years
^About.com > Patau Syndrome (Trisomy 13) Archived 2016-03-04 at the Wayback Machine From Krissi Danielsson. Updated June 10, 2009
Patausyndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome...
Patau may refer to: Klaus Patau, a geneticist who first reported Patau chromosome associated with PatausyndromePatau chromosome, also known as Chromosome...
chromosome in trisomy 13. The syndrome caused by trisomy 13 is often called Patausyndrome. It is also known as Bartholin-Patausyndrome, since the clinical picture...
compatible with live birth, other than Down syndrome (trisomy 21), are Edwards syndrome (trisomy 18) and Patausyndrome (trisomy 13). Complete trisomies of other...
Second-trimester ultrasound screening for aneuploidies, such as Edwards syndrome and Patausyndrome, is based on looking for soft markers and some predefined structural...
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing...
"A new trisomic syndrome". The Lancet. 275 (7128): 787–790. doi:10.1016/S0140-6736(60)90675-9. PMID 13819419. Smith, David W.; Patau, Klaus; Therman,...
found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patausyndrome) affects 1 in...
rather than diagnostic, tool for conditions such as Down syndrome, Patausyndrome, Edwards Syndrome, and non-genetic body-stalk anomaly. There are two distinct...
basis of certain phenotypes. For example, the karyogram of someone with PatauSyndrome would show that they possess three copies of chromosome 13. Karyograms...
or syndrome. Disorders associated with PRS include Stickler syndrome, DiGeorge syndrome, fetal alcohol syndrome, Treacher Collins syndrome, and Patau syndrome...
miscarriage. In rare cases this translocation results in Down syndrome and Patausyndrome. Robertsonian translocations result in a reduction in the number...
Triploid syndrome, also called triploidy, is a chromosomal disorder in which a fetus has three copies of every chromosome instead of the normal two. If...
known as Patausyndrome, as well as hereditary neuralgic amyotrophy. It can also be associated with fragile X syndrome and Prader–Willi syndrome. Metopic...
Kingdom 1920, United States 1926, Egypt 1950, India 1968, United States Patausyndrome Cat, 1775 Horse, 1775 Pig from Martinique, 1775 Goat, 1849 Dog Donkey...
21, 22, X and Y, including Down syndrome (caused by trisomy 21), Edwards syndrome (caused by trisomy 18), Patausyndrome (caused by trisomy 13), as well...
appearance of the vertical colobomas in the eyes of some patients. Patausyndrome (trisomy 13), a chromosomal abnormality that can cause a number of deformities...
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