TRISOMY 13

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Pre-PBL
syaanem
Mind Map by syaanem, updated more than 1 year ago
syaanem
Created by syaanem over 8 years ago
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Resource summary

TRISOMY 13
  1. Type of Mutation
    1. Aneuploidy
      1. involve X and Y chromosome
        1. more common than autosomal aneuploidy
    2. Causes
      1. chromosomal abnormality in which some or all of the cells of the body contain extra genetic material from chromosome 13
        1. each cells contain a full extra copy of chromosome 13
          1. each cell contain an extra partial copy of chromosome
            1. mosaic Patau syndrome
          2. Characteristics
            1. Parents can identify either their infant are having Patau syndrome or not by observing his/her appearance after the baby is born or during their growth development
              1. Growth failure
                1. Deafness
                  1. Mental retardation
                    1. Double ureter
                      1. Cryptorchidism
                        1. deformed finger nails
                          1. Kidney cysts
                            1. Low set deformed ears
                              1. Atrial septal defect
                            2. Advices
                              1. Medical Care
                                1. consultation with a care provided skilled in delivering serious information about
                                  1. recurrence risk
                                    1. screening and diagnostic testing
                                      1. for future pregnancies
                                        1. such as geneticist or genetic counselor
                                  2. Surgical Care
                                    1. surgical interventions
                                      1. generally withheld for the first few months of life
                                        1. because of the high mortality rate of babies with Patau syndrome
                                  3. Islamisation
                                    1. Despite all this, Patau syndrome will only occur on infant with Allah's will. Based on this Al-quran verse, which mean "Verily, when He intends a thing, His Command is, "be, and it is!". Thus, with the power of Allah Patau syndrome can happen to anybody and also with the power of Allah this Patau syndrome can be cured.
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