Child with abnormal facies

Child with abnormal facies

1. Neonatal Intensive Care Unit

   • Incubator
     • most important equipment
     • used for
       • oxygenation
       • observation
       • nutrition provision
       • fluid balance maintainance
       • medication adminstration
   • Resuscitation

2. Chromosome

   • Structure
     • DNA + proteins ( histones)
       • centromere- constricted part of chromosome
         • joins 2 arms
           • P arm- short arm
           • Q arm- Long arm
         • metacentric
         • submetacentric
         • acrocentric
         • telocentric
   • Number
     • somatic cells- 46
     • germ cells- 23
   • Chromosomal abnormalities
     • structural abnormalities
       • deletion
       • inversion
       • duplication
       • translocation
     • numerical abnormalities
       • polyploidy
         • trilpoidy
           • caused by polyspermy
         • tetraploidy
           • problem in cytokinesis
       • aneuploidy
         • caused by
           • nondysjunction
             • meiosis 1 or 2 in germ cells
           • translocation
             • reciprocal
             • robertsanian
           • failure in duplication
         • monosomy
           • one less chromosome in a chromosome set (2n-1)
         • trisomy
           • trisomy 21
             • Down Syndrome
               • risk factors
                 • maternal age >35
                 • one of the parents are translocation carriers
               • Physical signs
                 • craniofacial anomalies
                   • upslanting eyes
                   • epicanthal folds
                   • flattened face
                   • small ears
                 • hypotonia
               • health complications
                 • heart defects
                 • rare type of leukaemia
                 • metabolic irregularities
               • tests
                 • antenatal tests to diagnose chromosomal abnormalities
                   • screening tests
                     • maternal serum screening
                     • ultrasound
                   • karyotyping
                     • amniocentesis
                     • chorionic villus sampling
                     • confirmed by
                       • FISH
                         • tests for finer details, gene level mutations, and submicroscopic deletions
               • genetic counselling
                 • process that includes
                   • evaluating family history and medical history
                   • genetic tests done
                   • evaluate the tests
                   • decide what the options are, help parents understand, and make decision
               • intellectual disability
                 • measured by
                   • IQ test
                     • stanford binet intelligence scale
                   • developmental milestones
                     • delayed
                 • Humanitarian Aid
                   • by humanitarian organisation
                     • SCHS (Sharjah City for Humanitarian Services)
                       • local non profit organisation that aims to advance the arab family and develop social services it needs
                         • early intervention
                     • for rehabilitation
           • one extra chromosome in a chromosome set (2n+1)

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