child with abnormal facies

salem was born at term to a 41 years old multiparous woman
1. salem postpartum signs:
  1. upslanting eyes
  2. heart murmur
  3. breathing difficulties
    1. admitted to neonatal intensive care unit
      1. equipments needed:
        oxygen saturation monitor-oxygenation
        feeding tube-nutrition
        IV pump-nutrition
        temperature monitor-must be kept warm as he was just delivered from his mom's womb which is warm
        ECG and blood pressure monitor
      2. he needed immediate resuscitation
        ventilation (bad-musk)
        endotracheal intubation
2. karyotyping detects
  1. number of chromosomes
    1. normally we have 23 pair of chromosomes (46 or 2n)
      1. haploid(n)=23 chrom. -gamets
      2. diploid(2n)=46chrom-zygote or body cells
    2. abnormal
      1. polyploidy
        tripoid
        3(n)=3(23)=69 chromosomes
        tetraploid
        4(n)=4(23)=92 chromosomes
      2. aneuploidy
        causes
        translocation: displacment of a part or whole of one chromosome to another one
        3%
        causes trisomy 21
        which leads to down syndrome
        the age of the mother plays an important rule in causing such failures in meiosis or others. the older the woman the more she's at risk of having a down syndrome child
        complications
        mild intellectual disability
        IQ score range: 50-70
        IQ TEST Assessment
        vision problems
        heart defects
        most common: antrioventicular septal defect
        hearing problems
        hypothyrodism
        how to break bad news?
        practice what you're going to say
        choose the right time
        signal bad news before you dive in
        accept silence for a bit
        decide what to do next
        Salem was send to Sharjah city for humanitarian service
        their mission
        reduce the cause of varies disabilities through early intervention
        how to deal with down syndrome
        financial aspects
        education
        equipments
        treatment
        insurance
        behavioral aspect
        stubborn
        attention problem
        compulsive behavioral
        nondisjunction: failure for chromosomes to separate during anaphase
        in meiosis 1
        90%
        in meiosis 2
        10%
        failure of duplication: one chromosome fails to duplicate during S phase
  2. structure of chromosome
    1. normal
    2. abnormal
      1. deletion
      2. duplication
      3. inversion
      4. translocation
        balanced
        unbalanced
  3. can be performed by taking any cell like: amniotic fluid,blood, bone marrow and placenta
  4. other tests
    1. screeniing test
      1. detects risk for pregnancy to have down children baby. done in first and second trimester.
      2. uses ultrasound
      3. uses maternal serum screening
    2. genetic counseling
      1. process
        evaluating family history
        evaluate medical history
        genetic tests
        analyze blood samples and determine whether you, your partner or your child carry genes for certain inherited disorders.
chromosome types

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child with abnormal facies

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Medienanhänge

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