Also known as Patau Syndrome, Trisomy 13 is a genetic disorder in which the person gets three copies of chromosome 13, which in normal cases, is two copies. This extra copy of chromosome may cause neurological and heart defects making it challenging for infants to survive. Sponsored link Based on extra DNA from chromosome 13 present in some or all body cells, Trisomy 13 can be further classified into following types: Trisomy 13 mosaicism- When DNA from chromosome 13 is present in some of the cells.
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Synonyms of Trisomy 13 Syndrome Chromosome 13, Trisomy 13 Complete Complete Trisomy 13 Syndrome Patau Syndrome General Discussion Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times trisomy rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome mosaicism , whereas other cells contain the normal chromosomal pair. In individuals with Trisomy 13 Syndrome, the range and severity of associated symptoms and findings may depend on the specific location of the duplicated trisomic portion of chromosome 13, as well as the percentage of cells containing the abnormality. However, in many affected infants and children, such abnormalities may include developmental delays, profound mental retardation, unusually small eyes microphthalmia , an abnormal groove in the upper lip cleft lip , incomplete closure of the roof of the mouth cleft palate , undescended testes cryptorchidism in affected males, and extra supernumerary fingers and toes polydactyly.
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Berman MD Michele R. Berman MD February 03, Republican Presidential candidate Rick Santorum had to leave the campaign trail last weekend when his 3-year-old daughter Isabella Bella had to be hospitalized. Bella is the youngest of the seven Santorum children. They were also told that the life expectancy of children with Trisomy 18 was usually very short and that she would probably not live more than a year. Some people describe people like Bella as disabled children … I look at the joy, the simplicity and the love that she emits and its clear to me that we're the disabled ones.