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nondisjunction
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What is the genetic disorder associated with chromosome 5 monosomy?
The most common condition associated with a deletion of the end of chromosome 5 is: cri-du-chat syndrome.
Down syndrome is a genetic disorder characterized by what?
Additional chromosome
What is the genetic complement of an individual with Down syndrome?
An individual with down syndrome has one extra chromosome beyond 2N. Down syndrome is designated trisomy 21 or 47,XX+21.
Down syndrome is a genetic disorder caused by the presence of an extra chromosome in the body cells of humans this extra chromosome occurs in the gamete as a result of?
an error in meiotic cell division
Is there any cure for of a genetic disease called Angelman's syndrome?
Angelman's syndrome is a genetic disorder caused by deletion on genes on chromosome 15 contributed by the mother to child, once you are born with it, the faulty gene has already done the damage. There is no cure for it. Note: If their deletion of the same gene on chromosome 15 contributed by the father, it results in Prader Willi syndrome.
What is the difference between Edward's syndrome and Patau's syndrome?
in Patau there is an extra chromosome in chromosome 13, in Edwars it the extra chromosome is in chromosome 18
What are alternative names for Patau syndrome?
Patau's Syndrome Trisomy 13 Syndrome Trisomy D Syndrome Trisomie 13 Trisomee Trisome Trisomic Chromosomal Abnormalities, Chromosome Anomalies, Disorder Fetal Aneuploidy
What is the incidence of patau syndrome?
Patau syndrome, also known as Trisomy 13, is an abnormality of chromosomes in which a patient has an additional 13th chromosome due to a failure of chromosomes to split during meiosis. It can cause the following conditions: motor & mental retardation, extra digits, microcephaly, low-set ears, failure of the forbrain to divide properly, heart defects, eye defects, cleft palate, spinal defects, abnormal genitalia, abnormal palm patterns or overlapping of fingers over thumb. Photos of children with Patau Syndrome - Trisomy 13.
How is the diagnosis of infant Patau syndrome confirmed through genetic testing?
The diagnosis of Patau syndrome is confirmed by the presence of three, rather than the normal two, copies of the thirteenth largest chromosome.
What gender is more likely to get Patau syndrome?
Neither. Patau syndrome isn't gender-linked. In fact, the majority of the time it isn't even inherited directly from the parents. Patau syndrome is the event where an individual has an extra copy of the 13th chromosome. It most often occurs because of random error in meiosis.
What are four types of chromosomal mutations?
Four types of chromosomal mutations are Down syndrome (which is a mutation in which there are three copies of chromosome 21), Kinefelter Syndrome (which is a mutation in which a male has an extra X-chromosome), Turner Syndrome (which is a mutation in which a female is missing an X-chromosome), and Patau Syndrome (which is a mutation in which there are three copies of chromosome 13).
Who first described patau syndrome?
Patau syndrome was first described by Dr. Klaus Patau in 1960.
What are four of chromosomal mutation?
Four types of chromosomal mutations are Down syndrome (which is a mutation in which there are three copies of chromosome 21), Kinefelter Syndrome (which is a mutation in which a male has an extra X-chromosome), Turner Syndrome (which is a mutation in which a female is missing an X-chromosome), and Patau Syndrome (which is a mutation in which there are three copies of chromosome 13).
How does Patau Syndrome present?
The extra chromosome 13 causes numerous physical and mental abnormalities, especially heart defects.
Is Down syndrome a single gene or polygenic trait?
Down syndrome is a result of having an extra chromosome in one's genes. Chromosome thirteen* if your that much into the science. It is also called trisomy 21 because the chromosome 21 is the one with the abnormalities. *Abnormalities with chromosome thirteen is called Patau syndrome or trisomy 13.
What causes Patau syndrome and how does it differ from Down syndrome?
Patau syndrome is a very rare syndrome caused by a problem in the chromosomes, the structures in the body's cells that contain DNA. The specific chromosomal problem in Patau syndrome is that the cells have three copies of chromosome 13, as opposed to the usual two copies in most people. Because there are three copies of chromosome 13, the condition is also called trisomy 13. The cause of Patau syndrome is similar to Down syndrome. Like Patau syndrome, Down syndrome is caused by having an extra copy of a certain chromosome. Individuals with Down syndrome usually have an extra copy of chromosome 21. Thus, Down syndrome is commonly called trisomy 21. Perhaps not surprisingly, the cause of the trisomy in both Patau and Down syndromes is similar. A phenomenon called nondisjunction is responsible for most cases of trisomy 13 and 21. Nondisjunction is an error that can occur during cell division (specifically the cell division process called meiosis). Rather than splitting evenly, cells that have undergone nondisjunction typically split unevently into two cells; one cell receives one extra copy of a chromosome, while the other is deficient in the chromosome. A major risk factor for nondisjunction is advanced maternal age. The chance of nondisjunction increases significantly once mothers are 35 years old and greater. As you'd expect, the risk of Patau and Down syndromes increases considerably with advanced maternal age. To view photos of children Living with Trisomy 13 - Patau Syndrome http://www.livingwithtrisomy13.org
Who is Patau Syndrome named after?
Named for Dr. Klaus Patau, who reported the syndrome in 1960. It is sometimes called Bartholin-Patau syndrome, named in part for Thomas Bartholin, who described an infant with the syndrome in 1656.
