Download this Research Paper in word format. Trisomy 13 or Patau Syndrome is a genetic disease in which the person has 3 copies of the genetic material from chromosome 13 instead of having 2 copies.
In addition, microcephaly, eye anomalies, and scalp defects can suggest the diagnosis.
Brain malformations such as holoprosencephaly are found in more than half of patients with concomitant seizure disorders. Microcephaly, split sutures, and open fontanels are encountered.
Limb anomalies, such as postaxial polydactyly, single palmar creases, and hyperconvex narrow fingernails, are also seen. The fingers can be flexed or overlapped and can show camptodactyly.
An increased frequency of nuclear projections in neutrophils, giving a drumstick appearance similar to that of Barr bodies, can also be found.
This finding would be especially striking in males, in whom Barr bodies would not be expected. Mental retardation is profound, and many patients are blind and deaf as well. Feeding difficulties are typical.
Also similar to trisomy 18, various interventions can increase the survival of these infants and improve their overall quality of life. A discussion with the parents should be considered regarding these possibilities Carey, ; Kosho and Carey, Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy in newborns.
It results from an extra chromosome 13 secondary to nondisjunction or translocation. It results from an extra chromosome 13 secondary to nondisjunction or translocation. Patau Syndrome Or Trisomy thirteen Syndrome Health Essay Published: November 27, Patau syndrome or Trisomy 13 syndrome is the least common yet the most severe of all the viable autosomal trisomies; median survival is reported to be fewer than 3 days (Jonathan P Wyllie et al., ).
In this paper we will look at a short description of what Down syndrome really is, the genetic causes of Translocated Down syndrome, symptoms, characteristics, medications, intervention programs and testing for Down syndrome while an infant is still in the womb. Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy Trisomy 13 Essay, Research Paper Trisomy 13 (Patau Syndrome) Dr.
C.J Gamble To the Parents or Legal Guardians of Patient XCV42 In our extensive testing it was revealed to us that your son suffers from a genetic disorder called Trisomy 13 or Patau’s Syndrome.
Trisomy 13 is a syndrome caused by an extra 13th chromosome. Patau Syndrome Or Trisomy thirteen Syndrome Health Essay Published: November 27, Patau syndrome or Trisomy 13 syndrome is the least common yet the most severe of all the viable autosomal trisomies; median survival is reported to be fewer than 3 days (Jonathan P Wyllie et al., ).