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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 ...
In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome). The most frequent forms of Robertsonian translocations are between chromosomes 13 and 14, 14 and 21, and 14 and 15. [2]
The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in 10,000 births. 10% of infants with trisomy 18 or 13 reach 1 year of age.
Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Trisomy 9; Trisomy 8 (Warkany syndrome 2) Of these, Trisomy 21 and Trisomy 18 are the most common. In rare cases, a fetus with Trisomy 13 can survive, giving rise to Patau syndrome. Autosomal trisomy can be associated with birth defects, intellectual disability and shortened life ...
The trisomy 21 karyotype figure shows the chromosomal arrangement, with the prominent extra chromosome 21. Trisomy 21 is the cause of approximately 95% of observed Down syndrome, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete. [4]
The extra chromosome content can arise through several different ways. The most common cause (about 92–95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21. [91] [96] In 1–2.5% of cases, some of the cells in the body are normal and others have trisomy 21, known as mosaic Down syndrome.
Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21. Patau syndrome is caused by trisomy of chromosome 13. Trisomy 9, believed to be the 4th most common trisomy, has many long lived affected individuals but only in a form other than a full trisomy, such as trisomy 9p syndrome or mosaic trisomy 9. They often ...
Down syndrome, a trisomy of chromosome 21, is the most common anomaly of chromosome number in humans. [2] The majority of cases result from nondisjunction during maternal meiosis I. [ 14 ] Trisomy occurs in at least 0.3% of newborns and in nearly 25% of spontaneous abortions .