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A child with abnormal face

Beschreibung

Mindmap am A child with abnormal face, erstellt von Safaa Fayiz am 02/10/2016.
Safaa Fayiz
Erzeugt von Safaa Fayiz
Safaa Fayiz
Erstellt von Safaa Fayiz vor etwa 10 Jahre
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Zusammenfassung der Ressource

A child with abnormal face
  1. chromosomal abnormalities
    1. structural
      1. Ring chromosome
        1. Translocation
          1. During cell division, a part of the number 21 chromosome breaks off and attaches itself to another chromosome
            2. Duplication
              1. Inversion
                1. Deletion
                2. Numerical
                  1. Trisomy 13
                    1. Trisomy 18
                      1. Trisomy 21
                        1. Down syndrome
                          1. Types of down syndrome
                                1. Mosaicism
                                  1. A faulty cell division occurs in one of the early cell division after conception, resulting in some cells having 46 or 47 chromosomes.
                                  2. Antenatal tests
                                    1. Screening Test
                                      1. Ultrasound
                                        1. Blood Test
                                        2. Diagnostic Test
                                          1. Amniocentesis
                                            1. CVS
                                          2. Physical Features
                                            1. Upward slanting eyes
                                              1. Epicanthal folds
                                                1. Brushfield spots
                                                  1. Midface hypoplasia
                                                    1. Dysplastic pinnae
                                                      1. Generalized hypotonia
                                                        1. Small mouth & protruding tongue
                                                          1. short fingers
                                                            1. short neck
                                                              1. Flattened facial features
                                                              2. Complications
                                                                1. Heart problems
                                                                  1. Gut problems
                                                                    1. Hearing problems
                                                                      1. vision problems
                                                                        1. Thyroid problems
                                                                          1. Dementia
                                                                            1. Increased risk of infection
                                                                            2. IQ test
                                                                              1. Mild
                                                                                1. 50-60
                                                                                2. Moderate
                                                                                  1. 35-49
                                                                                  2. Severe
                                                                                    1. 20-34
                                                                                    2. Profound
                                                                                      1. <20
                                                                                    3. Genetic consulling
                                                                                        1. Management
                                                                                          1. Communication
                                                                                          2. Risk factors
                                                                                            1. Smoking
                                                                                              1. Maternal Age
                                                                                                1. Having previous pregnancies with D.S. (translocation type)
                                                                                                2. Effects
                                                                                                  1. Siblings
                                                                                                    1. High level of maturity
                                                                                                    2. Parents
                                                                                                      1. Shock
                                                                                                  2. There is an extra #21 chromosome in each cell
                                                                                                3. Tests
                                                                                                  1. FISH
                                                                                                    1. karyotyping
                                                                                                    2. Demographics
                                                                                                        1. Baby boy

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