A child with abnormal face

chromosomes
1. structure
  1. DNA
  2. histones
2. number
  1. 22 pairs of autosome
  2. pair of sex chromosomes
3. karyotype
  1. how it is done
    1. blood sample
    2. amniotic fluid
    3. bone marrow
  2. FISH
4. chromosomal abnormalities
  1. numerical
    1. polyploidy
      1. Triploidy
      2. Tetraploidy
    2. Anueoploidy
      1. Trisomy
        Trisomy 21
        Down syn
        Trisomy 13
        Patau syn
        Trisomy 18
        Edward syn
      2. Monosomy
  2. structural
    1. Deletion
    2. Duplication
    3. Translocation
    4. Inversion
Down Syndrom
1. Types
  1. Mosaicism
2. physical feature
  1. upslanting eye
  2. brushfield
  3. mildface hypoplasia
  4. dysplastic pinnae
  5. hypotonia
  6. small mouth & protruding tongue
  7. sandal gap
3. complication
  1. heart problem
  2. gut problem
  3. hearing problems
  4. dementia
  5. Thyroid problems
  6. risk of infections
4. Risk factors
  1. increase maternal age
  2. Had child with DS
  3. Translocation carrier
  4. statistical analysis
  5. chromosomal anueploidy
5. having DS child Affect
  1. Family
    1. parent
    2. siblings
    3. support can be given
      1. relatives & friends
      2. support groups
      3. Advices to family !
6. Social & Rehabilitation
  1. regular physical activity
  2. provide stimulation & encouragement
  3. care from health professional
  4. early intervention and educational therapy
Tests
1. Genetic counselling
  1. Tests
    1. karyotyping
  2. patient at risk of inherited disorder
2. Antenatal tests
  1. screening test
    1. combined
      1. blood test
      2. ultrasound
    2. Quadruple
  2. Diagnostic test
    1. amniocentesis
    2. chronic villus test
Breaking Bad news
1. How ?
2. Autonomy
3. Bioetheic
IQ level
2. for DS

Next up

A child with abnormal face

Description

Resource summary

Media attachments

Similar

	Created by Batool Aldaher over 9 years ago