29 October 2014
Case Study Writing Assignment
Patient C
Your baby boy was a patient of Trisomy 13, formerly known as Patau’s Syndrome. This disorder caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. This can occur either because each cell contains a full extra copy of chromosome 13 or because each cell contains an extra partial copy of the chromosome or because of mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis. The extra genetic material from chromosome 13 disrupts the normal course of development, causing multiple and complex organ defects. Like all nondisjunction conditions the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average. Patau’s syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.
Patau's syndrome is the result of trisomy 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two. A small percentage of cases occur when only some of the body's cells have an extra copy; such cases are called mosaic Patau. It can also occur when part of chromosome 13 becomes attached to another chromosome before or at conception in a Robertsonian translocation. Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ from the typical Patau syndrome. Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes. Some of the physical appearances and symptoms of trisomy...