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Mosaic Triploidy

Rare disease

Rachel Cieri

on 4 January 2013

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Transcript of Mosaic Triploidy

Sources http://www.primehealthchannel.com/triploidy-causes-symptoms-diagnosis-and-treatment.html




https://docs.google.com/viewer?a=v&q=cache:0nr2n2UTciUJ:www.rarechromo.org/information/Other/Triploidy%2520FTNW.pdf+Triploidy&hl=en&gl=in&pid=bl&srcid=ADGEESh93UaE-ZrcSVKzkOKuTN7oZV966R_HwyrGIu8DXDc8w2srHdkwNK9ZiFYp0QtH80EOazlq7GJw_HAmLEUv7EcHTGaQdOvApOe_xJe-2wQ6bdonKFQ8LbldUNoNiXcycKwlwSO8&sig=AHIEtbTySi_mJvpmElHY4UNdJ3Pn0Kx54w Description of the Disease Mosaic Triploidy Disease -Mosaic Triploidy happens when an infant is present with an extra set of chromosomes. This means they have 69 rather than a normal set of 46. It can be inherited from the mother's genes or the father's genes.
-Causes major birth defects, severe growth problems and major delays with a child's mental development.
-Most children don't survive past the womb and are stillborn or involved in a miscarriage. How It happens -The most common way (60%) a child can have Triploidy is when a single egg is fertilized by two sperm. This means that a triploid egg is formed with 2 sets paternal chromosomes and 1 set of maternal chromosomes.
-Another way is when there is an error in cell division. One cell ends up with 46 chromosomes and then the sperm which has 23 chromosomes fertilizes it. Signs of Mosaic Triploidy -The babies that actually reach conception usually have the characteristics of a person with down syndrome. Ex: A flat face, short stature and large eyes.
-The child will develop very, very slowly and usually won't live up to more than a year. A Very Rare, Unknown Disease -It is not known where the disease was originated or who discovered it first for that matter.
-There is also no known cure or medicine of any kind for this disease.
-The frequency that this disorder arises is about 2,500 live births and about 2% conceptions.
-While pregnant, the mother can actually get cancer called Choriocarcinoma, because there may be some left over molar tissue from her molar birth.
Cute moments
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