A Child with Abnormal Facies

Chromosomes
1. What is a chromosome?
  1. Thread-like structure made up of protein and DNA
    1. Can be differentiated based on 3 characteristics
      1. Banding Pateering
      2. Location of centromere
      3. Length
2. Number
  1. Human cells contain 23 pairs of chromosomes, a total of 46
    1. 22 pairs are autosomes
      1. Same for both females and males
    2. 23rd pair is the sex chromosomes
      1. Different in females and males
3. Chromosomal Abnormalities
  1. A set of conditions which are caused due to a problem with chromosomes
    1. May be caused as a result of errors in meiosis or mitosis
  2. Examples
    1. Edward's Syndrome
    2. Turner Syndrome
    3. Patau's Syndrome
    4. Klinefelter's Syndrome
    5. Jacob's Syndrome
    6. Down Syndrome
  3. Genetic Counseling
    1. When can it be used?
      1. Planning for pregnancy
      2. During pregnancy
      3. If a parent or relative has a birth defect
      4. Pregnant women above 35
    2. Aim
      1. Enhancing the accuracy of risk preception
      2. Promoting health-enhancing behavior
      3. Facilitating adaption to genetic risk
      4. Detecting diseases early or preventing it
    3. What is it?
      1. Process of advising individuals affected by or at risk of a genetic disorder
  4. Ways to confirm:
    1. Amniocentesis
    2. Chorionic villi sampling
    3. Sonogram Screening
    4. Fluorescence In Situ Hybridization
    5. Comparative Genomic Hybridization
4. Karyotyping
  1. The process by which photographs of chromosomes are taken
Down Syndrome
1. What is down syndrome?
  1. A condition in which the child has an extra copy of the 21st chromosome
2. Types
  1. 1. Trisomy Down syndrome (47n)
      1. Due to non-disjunction
        Last pair of homologous chromosomes fail to separate
    2. Translocation Down Syndrome (46n)
    3. Mosiac Down Syndrome (47n and 46n)
3. Clinical Presentation
  1. Abnormalities
    1. Craniofacial
      1. Brachycephaly
      2. Upward slanting palpebral fissure
      3. Open mouth with protruding tongue
      4. Short nose
      5. Small and low set of ears
      6. Short and webbed neck
    2. Neurocognitive
      1. Hypotonia
      2. Intellectual disability
    3. Growth
      1. Microcephaly
      2. Short stature
      3. Increased weight
    4. Hands and Feet
      1. Brachydactyly
      2. Clinodactyly
      3. Sandal Gap
    5. Eyes
      1. Strabismus
      2. Brushfield spots and lense opacities
    6. Ears
      1. Hearing loss
  2. Complications
    1. Cardiac
      1. Endocardial Cushion Defect
      2. ASD, VSD, PDA
    2. GI anomalies
      1. Heartburns
      2. Celiac disease
      3. Duodenal Atresia
    3. Endocrine
      1. Hypothyroidism, infertility
    4. Blood disorders
      1. Risk of leukemia
    5. Behavioral and psychological problems
      1. ADHD
      2. Aggressive behavior
    6. Fertility
      1. Most men are infertile
      2. Women are usually fertile
  3. Intellectual Disability in Down Syndrome
    1. Delayed Development Milestones
    2. Short attention span
    3. Poor judgement
    4. Impulsive Behavior
    5. Delayed language and speech milestones
    6. Treatment
      1. Social Rehabilitation
        Speech-language therapy
        Developing communication and language skills
        Physical therapy
        Improving how they move, balance, and correcting posture
        Occupational therapy
        Improve skills of day to day activites
        Assistive technology
        Devices that help them function better
        Special education
        Providing special education
  4. Life Expectancy
    1. Increased over the years an average of 55 to 60 years
4. Antenatal Tests

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A Child with Abnormal Facies

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