Articles on Tetrasomy include:
 | This disambiguation page lists articles associated with the title Tetrasomy. If an internal link led you here, you may wish to change the link to point directly to the intended article. |
Articles on Tetrasomy include:
| | This disambiguation page lists articles associated with the title Tetrasomy. If an internal link led you here, you may wish to change the link to point directly to the intended article. |
Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 gene.
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a euploid cell. An extra or missing chromosome is a common cause of genetic disorders, including some human birth defects. Some cancer cells also have abnormal numbers of chromosomes. About 68% of human solid tumors are aneuploid. Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells. Most cases of aneuploidy in the germline result in miscarriage and the most common extra autosomal chromosomes among live births are 21, 18, and 13.
XXXX may refer to:
An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies. The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs. Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.
Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. Most eukaryotic species are diploid, meaning they have two sets of chromosomes, whereas prokaryotes are haploid, containing a single chromosome in each cell. Aneuploids possess chromosome numbers that are not exact multiples of the haploid number and polysomy is a type of aneuploidy. A karyotype is the set of chromosomes in an organism and the suffix -somy is used to name aneuploid karyotypes. This is not to be confused with the suffix -ploidy, referring to the number of complete sets of chromosomes.
Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs and represents about 2.5 percent of the total DNA in cells.
Tetrasomy X is an extremely rare chromosomal disorder caused by the presence of four X chromosomes instead of two X chromosomes.
Pentasomy X, also known as 49,XXXXX, is a chromosomal abnormality in which a female has five X chromosomes instead of the normal two. Signs may include intellectual disability, short height, low-set ears, decreased muscle tone, and developmental delay. Complications may include congenital heart disease.
Pallister–Killian syndrome is an extremely rare genetic disorder occurring in humans. Pallister–Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. This leads to the development of tetrasomy 12p. Because not all cells have the extra isochromosome, Pallister–Killian is a mosaic condition.
Tetrasomy 18p is a genetic condition that is caused by the presence of an isochromosome, composed of two copies of the short arm of chromosome 18. It is characterized by multiple medical and developmental concerns.
Elizabeth II is Queen of the United Kingdom and the other Commonwealth realms. She was born in London as the first child of the Duke and Duchess of York, later King George VI and Queen Elizabeth, and she was educated privately at home. Her father acceded to the throne on the abdication of his brother King Edward VIII in 1936, from which time she was the heir presumptive. She began to undertake public duties during the Second World War, serving in the Auxiliary Territorial Service. In 1947, she married Prince Philip, Duke of Edinburgh, a former prince of Greece and Denmark, with whom she has four children: Charles, Prince of Wales; Anne, Princess Royal; Prince Andrew, Duke of York; and Prince Edward, Earl of Wessex.
Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy. Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their body. There are many kinds of disorders associated with Trisomy 22:
18p may refer to:
A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome.
Tetrasomy 9p is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome 9, in addition to the usual two. Symptoms of tetrasomy 9p vary widely among affected individuals, but typically include varying degrees of delayed growth, abnormal facial features, and intellectual disability. Symptoms of the disorder are comparable to those of trisomy 9p.
Patrick is a 1978 Australian science fiction horror film directed by Richard Franklin and written by Everett De Roche. The film popularised Ozploitation films in other territories. A remake, Patrick, was released in 2013.
12P may refer to:
Samantha's Law is an advocacy initiative in the Province of Alberta. Samantha Lauren Martin was born June 4, 1993 and died December 3, 2006. Samantha Martin was born with Tetrasomy 18p, a rare chromosome syndrome, resulting in global developmental delays, Autism and a Seizure disorder. In 2009 the House of Commons tabled the United Nations Convention on the Rights of Persons with Disabilities recognizing December 3 as International Day of Persons with Disability.
9P or 9-P may refer to: